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Article

A novel truncating variant in the FGD1 gene associated with Aarskog-Scott syndrome in a family previously diagnosed with Tel Hashomer camptodactyly.

American journal of medical genetics. Part A - 1 Oct 2021

Kessel Irena, German Alina, Peleg Amir, Gonzaga-Jauregui Claudia, Paperna Tamar, Ekhilevitch Nina, Kurolap Alina, Baris Feldman Hagit, Sagi-Dain Lena

Abstract excerpt

Tel Hashomer camptodactyly syndrome is a long-known entity characterized by camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases. Currently, the genetic basis for this disorder is unknown, thus there is a possibility that this clinical presentation may be contained within another genetic diagnosis. Here, we present a multiplex family with a previous clinical diagnosis of Tel...

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Identifiers

PMID: 34145742
DOI: 10.1002/ajmg.a.62401

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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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