A novel mutation in the fatty acid transport protein 4 gene in a patient initially described as affected by self‐healing congenital verruciform hyperkeratosis

No abstract is available for this paper.

• Publication year

  2010

• Venue

  American Journal of Medical Genetics. Part A

• Publication date

  2010-10-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1002/ajmg.a.33648PMID 20815031
• 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.

• Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome.

  2009cited by this paper
• Ichthyosis prematurity syndrome: a well-defined congenital ichthyosis subtype.

  2008influential reference
• A founder mutation for ichthyosis prematurity syndrome restricted to 76 kb by haplotype association

  2006cited by this paper
• Self‐healing congenital verruciform hyperkeratosis

  2004cited by this paper
• Mice with targeted disruption of the fatty acid transport protein 4 (Fatp 4, Slc27a4) gene show features of lethal restrictive dermopathy

  2003cited by this paper
• Preterm birth in Sjögren-Larsson syndrome.

  1999influential reference
• Ichthyosis congenita type IV: a new case resembling diffuse cutaneous mastocytosis

  1997cited by this paper
• Recessive Ichthyosis Congenita Type IV

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• Genetics of Inherited Ichthyoses and Related Diseases

  2020cites this paper
• Syndrome mit Schuppung und Keratosen

  2019cites this paper
• X-chromosomal vererbte Syndrome

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• [Ichthyosis prematurity syndrome: Two new cases].

  2018cites this paper
• Vernix Caseosa–like Hyperkeratotic Plaques in a French Canadian Infant

  2018cites this paper
• Identification of novel FATP4 mutations in a Japanese patient with ichthyosis prematurity syndrome

  2015cites this paper
• Autosomal Recessive Congenital Ichthyosis

  2014cites this paper
• Ichthyosis Prematurity Syndrome: A Case Report and Review of Known Mutations

  2014cites this paper
• Role of fatty acid transporters in epidermis: Implications for health and disease

  2014cites this paper
• Ichthyosis prematurity syndrome: clinical evaluation of 17 families with a rare disorder of lipid metabolism.

  2012cites this paper
• A Spontaneous Fatp4/Scl27a4 Splice Site Mutation in a New Murine Model for Congenital Ichthyosis

  2012influential citation
• FATP4 missense and nonsense mutations cause similar features in Ichthyosis Prematurity Syndrome

  2011cites this paper
• Ichthyosis prematurity syndrome caused by a novel fatty acid transport protein 4 gene mutation in a German infant.

  2011cites this paper
• Role of fatty acid transporters in epidermis

  2011cites this paper
• The Expression and Function of Fatty Acid Transport Protein-2 and -4 in the Murine Placenta

  2011cites this paper
• Comments on the Proposed Term Pleomorphic Ichthyosis

  2010cites this paper
• Ichthyosis Prematurity Syndrome due

  year unknowncites this paper
• Ichthyosis prematurity syndrome ( IPS ) ( OMIM # 608649 ) is a rare autosomal recessively inherited syndromic ichthyosis

  year unknowncites this paper