Frank -Ter Haar Syndrome in a Newborn

No abstract is available for this paper.

• Publication year

  2012

• Venue

  Indian Journal of Pediatrics

• Publication date

  2012-08-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1007/s12098-011-0599-2PMID 22037860
• 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.

• Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome.

  2010cited by this paper
• The skeletal dysplasias

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• Frank-ter Haar syndrome with unusual clinical features.

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• Fetal skeletal dysplasia: an approach to diagnosis with illustrative cases.

  2008cited by this paper
• Further delineation of Frank–ter Haar syndrome

  2004influential reference
• Congenital glaucoma, limb deformities, skeletal dysplasia, and facial anomalies: report of another family.

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• Autosomal recessive Melnick-Needles syndrome or ter Haar syndrome? Report of a patient and reappraisal of an earlier report.

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• X-linked or autosomal dominant, lethal in the male, inheritance of the Melnick-Needles (osteodysplasty) syndrome? A reappraisal.

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• Melnick-Needles syndrome: indication for an autosomal recessive form.

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• Nelson Textbook of Pediatrics

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