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Article

Seven patients with Smith-McCort dysplasia 2: Four novel nonsense variants in RAB33B and follow-up findings.

European journal of medical genetics - 1 Jul 2021

Tüysüz Beyhan, Geyik Filiz, Yıldırım Timur, Alkaya Dilek Uludağ, Sharifova Sabine, Kafadar Ali

Abstract excerpt

Smith-McCort dysplasia 2 (SMC2) is a rare spondylo-epiphyseal-metaphyseal dysplasia caused by biallelic RAB33B variants. Short trunk dwarfism and radiological findings including the lacy ilia appearance and double bumps of the vertebral bodies are typical features. To date, only eight patients with SMC2 had been reported. The aim of this study is to evaluate the follow-up findings of seven patients from five...

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Identifiers

PMID: 34000439
DOI: 10.1016/j.ejmg.2021.104248

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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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