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Article

A homozygous ROR2 variant in a family with atypical Robinow syndrome and tetramelic transverse deficiency of autopods.

American journal of medical genetics. Part A - 1 Jan 2022

Malik Sajid, Nalbant Gökhan, Noreen Moqadsa, Afzal Muhammad, Tolun Aslıhan

Abstract excerpt

We present five members of a consanguineous Pakistani kinship with the most severe familial tetramelic transverse autopod deficiency reported to date and additionally having some of the common autosomal recessive Robinow syndrome-1 (RRS1) features including short stature, short neck, severe vertebral anomalies of kyphoscoliosis, hemivertebrae, fusion of thoracic vertebrae, broad forehead, and dental crowding. We...

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PMID: 34569147
DOI: 10.1002/ajmg.a.62514

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A homozygous ROR2 variant in a family with atypical Robinow syndrome and tetramelic transverse deficiency of autopods.PMID 34569147Read ↗

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