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Article

Growth Standards for Children With Smith-Magenis Syndrome (SMS).

American journal of medical genetics. Part A - 1 Mar 2026

Hoover-Fong Julie, McGready John, Fleming Leah, Schulze Kerry, Duncan Folami, Leonard Alexis, de Blois Boucard Marie Christine, Moretti-Ferreira Danilo, Gropman Andrea L, Introne Wendy J, Smith Ann C M

Abstract excerpt

Smith-Magenis syndrome (SMS, OMIM 182290) is a complex syndromic diagnosis marked by neurobehavioral differences and distinct facial dysmorphisms, caused by haploinsufficiency of the retinoic acid-1 (RAI1) gene either by a pathogenic sequence variant or deletion at chromosome 17p11.2 involving a portion or all of this gene. Dysmorphisms may include a broad square face and brachycephaly, heavy eyebrows, a full...

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Source

Identifiers

PMID: 41117131
DOI: 10.1002/ajmg.a.64167

Genes

SMS
RAI1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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