Phenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals

No abstract is available for this paper.

• Publication year

  2016

• Venue

  American Journal of Medical Genetics. Part C, Seminars in Medical Genetics

• Publication date

  2016-03-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1002/ajmg.c.31473PMID 26853229
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Goltz Syndrome (Focal Dermal Hypoplasia)

  2016cited by this paper
• Goltz syndrome and PORCN mosaicism

  2014cited by this paper
• Treatment of Recalcitrant Excessive Granulation Tissue with Photodynamic Therapy in an Eight‐Year‐Old Patient with Focal Dermal Hypoplasia Syndrome

  2012influential reference
• Outpatient tonsillectomy in children: demographic and geographic variation in the United States, 2006.

  2012influential reference
• Deletion of mouse Porcn blocks Wnt ligand secretion and reveals an ectodermal etiology of human focal dermal hypoplasia/Goltz syndrome

  2011influential reference
• Mutation update for the PORCN gene

  2011cited by this paper
• Porcupine homolog is required for canonical Wnt signaling and gastrulation in mouse embryos.

  2011cited by this paper
• PORCN Mutations and Variants Identified in Patients with Focal Dermal Hypoplasia Through Diagnostic Gene Sequencing

  2010cited by this paper
• Gorlin's Syndromes of the Head and Neck

  2010cited by this paper
• PORCN mutations in focal dermal hypoplasia: coping with lethality

  2009cited by this paper
• PORCN gene mutations and the protean nature of focal dermal hypoplasia

  2009cited by this paper
• PORCN mutations in focal dermal hypoplasia: coping with lethality

  2009cited by this paper
• Goltz–Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap

  2009cited by this paper
• Wnt signaling in focal dermal hypoplasia

  2007cited by this paper
• Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia

  2007cited by this paper
• Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia

  2007cited by this paper
• Airway management in a patient with focal dermal hypoplasia.

  2006cited by this paper
• Focal dermal hypoplasia syndrome. An update.

  1992cited by this paper
• Goltz syndrome: focal dermal hypoplasia.

  1983cited by this paper

• Hipoplasia dérmica focal

  2025cites this paper
• Treatment of a case with short stature and Goltz syndrome with long-acting growth hormone: a case report and follow-up

  2025cites this paper
• Dentofacial manifestations of a Paediatric patient with Goltz–Gorlin Syndrome

  2024cites this paper
• Phenotypes, Genetics, and Estimated Prevalence of Focal Dermal Hypoplasia (Goltz Syndrome): A Single‐Center Report

  2024cites this paper
• Ectodermal Dysplasia – An Overview and Update

  2024cites this paper
• Fokale dermale Hypoplasie durch pathogene Variante im PORCN-Gen in postzygotischer, unilateraler Mosaik-Konstellation

  2024cites this paper
• A novel large deletion mutation involving the PORCN gene in a Chinese patient with focal dermal hypoplasia and literature review

  2023cites this paper
• Case Report: Papillary thyroid carcinoma in Goltz–Gorlin syndrome

  2023influential citation
• Inhibiting WNT secretion reduces high bone mass caused by Sost loss-of-function or gain-of-function mutations in Lrp5

  2023cites this paper
• Focal Dermal Hypoplasia: Case Series

  2023cites this paper
• Focal Dermal Hypoplasia Associated With Lymphedema: A Case Report From Saudi Arabia

  2023influential citation
• Urogenital presentation of a male patient with focal dermal hypoplasia

  2023cites this paper
• A novel intronic PORCN variant creating an alternative splice acceptor site in a mother and her daughter with focal dermal hypoplasia

  2022cites this paper
• Goltz Syndrome Combined with Triple X Syndrome, a Case Report

  2022cites this paper
• Focal Dermal Hypoplasia (Goltz Syndrome): A Case Report Showing a Wide Variety of Systemic and Oral Manifestations

  2022influential citation
• Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects

  2022cites this paper
• Structural model of PORCN illuminates disease-associated variants and drug binding sites

  2021cites this paper
• Two new patients with focal dermal hypoplasia: A novel PORCN variant and insights on the diagnostic considerations

  2021cites this paper
• Neonatal Onset Glaucoma in a Case with Gorlin–Goltz Syndrome: An Unusual Association

  2021influential citation
• Implementation of high‐resolution melting analysis of the porcupine (PORCN) gene for molecular diagnosis of focal dermal hypoplasia: Identification of a novel mutation

  2020influential citation
• Multiple cutaneous and skeletal abnormalities in an 8‐month‐old boy

  2020cites this paper
• Hipoplasia dérmica focal o síndrome de Goltz

  2020cites this paper
• Non‐syndromic anophthalmia/microphthalmia can be caused by a PORCN variant inherited in X‐linked recessive manner

  2020cites this paper
• Hipoplasia dérmica focal o síndrome de Goltz

  2020cites this paper
• Focal dermal hypoplasia

  2019cites this paper
• Papillomas in Goltz syndrome: case report, anaesthetic considerations, and review of the literature.

  2019cites this paper
• Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2)

  2019cites this paper
• Rare and unusual case of familial focal dermal hypoplasia (Goltz syndrome) presenting to otolaryngology in the UK

  2019cites this paper
• Fragmented Elastic Fibers in Focal Dermal Hypoplasia (Goltz-Gorlin Syndrome) Without Focal Dermal Hypoplasia: Report of a Male Case and Review of the Literature.

  2019cites this paper
• Fokale dermale Hypoplasie als Mosaikläsion oder doch eine Anetodermie?

  2018influential citation
• A Case of Familial Focal Dermal Hypoplasia: A Report of 3 Cases in Consecutive Generations

  2018cites this paper
• An update on oculocerebrocutaneous (Delleman‐Oorthuys) syndrome

  2018cites this paper
• Erosions and vesicles following the lines of Blaschko in a neonate

  2018cites this paper
• Erythematöse and hypopigmentierte Streifen mit Atrophie entlang der Blaschko‐Linien

  2018cites this paper
• Goltz syndrome in males: A clinical report of a male patient carrying a novel PORCN variant and a review of the literature

  2018cites this paper
• Goltz-Gorlin Syndrome: Revisiting the Clinical Spectrum

  2018influential citation
• Gender and Dermatology

  2018cites this paper
• Gender and Genodermatoses

  2018cites this paper
• Síndrome de Goltz

  2018cites this paper
• Esophageal Squamous Cell Papillomatosis Arising in Focal Dermal Hypoplasia in a 3-Year-Old Girl.

  2018cites this paper
• NMDA-receptor Antagonism in Pediatric Pancreatitis: Use of Ketamine and Methadone in a Teenager With Refractory Pain.

  2018cites this paper
• A Novel PORCN Frameshift Mutation Leading to Focal Dermal Hypoplasia: A Case Report

  2018cites this paper
• Laser-Induced Neocollagenesis in Focal Dermal Hypoplasia Associated With Goltz Syndrome in a Girl

  2017cites this paper
• Mosaic Focal Dermal Hypoplasia (Goltz Syndrome) in Two Female Patients.

  2017cites this paper
• Erythematous and hypopigmented streaks of thinned dermis along Blaschko's lines

  2017cites this paper
• Focal Dermal Hypoplasia (Goltz Syndrome): A Cross-sectional Study from Eastern India

  2017influential citation
• [Focal dermal hypoplasia (Goltz-Gorlin syndrome) : The cause is now known].

  2016cites this paper
• Fokale dermale Hypoplasie (Goltz-Gorlin-Syndrom)

  2016cites this paper
• hy-Mosaic Focal Dermal Hypoplasia (Goltz Syndrome) in Two Female Patients

  year unknowncites this paper