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Article

RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome.

American journal of human genetics - 1 Aug 2009

Basel-Vanagaite Lina, Sarig Ofer, Hershkovitz Dov, Fuchs-Telem Dana, Rapaport Debora, Gat Andrea, Isman Gila, Shirazi Idit, Shohat Mordechai, Enk Claes D, Birk Efrat, Kohlhase Jürgen, Matysiak-Scholze Uta, Maya Idit, Knopf Carlos, Peffekoven Anette, Hennies Hans-Christian, Bergman Reuven, Horowitz Mia, Ishida-Yamamoto Akemi, Sprecher Eli

Abstract excerpt

Inherited disorders of elastic tissue represent a complex and heterogeneous group of diseases, characterized often by sagging skin and occasionally by life-threatening visceral complications. In the present study, we report on an autosomal-recessive disorder that we have termed MACS syndrome (mac...

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Source

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Identifiers

PMID: 19631308
DOI: 10.1016/j.ajhg.2009.07.001
PMCID: PMC2725231

Genes

RIN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-19631308-2026-09-04.1. Manifest publication-graph-cohort-2026-09-04.1.

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

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