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Article

A novel mutation at ANTXR1 in an Indian patient with growth retardation-alopecia-pseudoanodontia-optic atrophy syndrome.

Oral surgery, oral medicine, oral pathology and oral radiology - 1 Nov 2017

Chattopadhyay Esita, Ghose Sandip, Ray Anindita, Anjum Nishat, Mazumdar Anjana, Roy Bidyut

Abstract excerpt

OBJECTIVE: Growth retardation-alopecia-pseudoanodontia-optic atrophy (GAPO) syndrome (Online Mendelian Inheritance in Man [OMIM] ID 230740) is one of the rarest autosomal recessive syndromes. It is characterized by many phenotypes, including wide anterior fontanel, frontal bossing of the face, depressed nasal bridge, along with the 4 classic phenotypes contained in the name of the syndrome. Recent reports...

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Source

Identifiers

PMID: 28870703
DOI: 10.1016/j.oooo.2017.07.009

Genes

ANTXR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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