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Article

Newly described clinical features in two siblings with MACS syndrome and a novel mutation in RIN2.

American journal of medical genetics. Part A - 1 Feb 2014

Aslanger Ayca D, Altunoglu Umut, Aslanger Emre, Satkın Bilge N, Uyguner Zehra Oya, Kayserili Hülya

Abstract excerpt

The disorder comprising Macrocephaly, Alopecia, Cutis laxa, and Scoliosis has been designated MACS syndrome. It is a rare condition, inherited in an autosomal recessive pattern. Three families from different ethnic origins have so far been reported and were all linked to homozygous mutations in R...

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Source

Identifiers

PMID: 24449201
DOI: 10.1002/ajmg.a.36277

Genes

RIN2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24449201-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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