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Article

Frontometaphyseal dysplasia 1 in a patient from Sri Lanka.

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

Dissanayake Ruwangi, Senanayake Manouri P, Fernando Jerard, Robertson Stephen P, Dissanayake Vajira H W, Sirisena Nirmala D

Abstract excerpt

A Sri Lankan male child with supraorbital hyperostosis, broad nasal bridge, small mandible, severe kyphoscoliosis, distal joint contractures of the hands and long second and third toes is described. A hemizygous pathogenic variant in exon 22 of the filamin A (FLNA) gene [NM_001110556.1: c.3557C>T; which leads to a nonsynonymous substitution of serine by leucine at codon 1186 in the FLNA protein; NP_001104026.1:...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 33372358
DOI: 10.1002/ajmg.a.62058

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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