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Article

The phenotypic spectrum of AMER1-related osteopathia striata with cranial sclerosis: The first Canadian cohort.

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

Heikoop David, Brick Lauren, Chitayat David, Colaiacovo Samantha, Dupuis Lucie, Faghfoury Hanna, Goobie Sharan, Mendoza Roberto, Napier Melanie, Nowaczyk Margaret, Oh Rachel, Silver Josh, Prasad Chitra, Saleh Maha

Abstract excerpt

Osteopathia striata with cranial sclerosis (OSCS; OMIM# 300373) is a rare X-linked disorder caused by mutations of the AMER1 gene. OSCS is traditionally considered a skeletal dysplasia, characterized by cranial sclerosis and longitudinal striations in the long bone metaphyses. However, OSCS affects many body systems and varies significantly in phenotypic severity between individuals. This case series focuses on...

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PMID: 34414661
DOI: 10.1002/ajmg.a.62452

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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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