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Article

Report of two novel mutations in PTHLH associated with brachydactyly type E and literature review.

American journal of medical genetics. Part A - 1 Mar 2016

Thomas-Teinturier Cecile, Pereda Arrate, Garin Intza, Diez-Lopez Ignacio, Linglart Agnès, Silve Caroline, de Nanclares Guiomar Pérez

Abstract excerpt

Autosomal-dominant brachydactyly type E is a congenital limb malformation characterized by small hands and feet as a result of shortened metacarpals and metatarsals. Alterations that predict haploinsufficiency of PTHLH, the gene coding for parathyroid hormone related protein (PTHrP), have been identified as a cause of this disorder in seven families. Here, we report three patients affected with brachydactyly type...

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Identifiers

PMID: 26640227
DOI: 10.1002/ajmg.a.37490

Genes

PTHLH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Report of two novel mutations in PTHLH associated with brachydactyly type E and literature review.PMID 26640227Read ↗

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