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Article

Additional three patients with Smith-McCort dysplasia due to novel RAB33B mutations.

American journal of medical genetics. Part A - 1 Mar 2017

Salian Smrithi, Cho Tae-Joon, Phadke Shubha R, Gowrishankar Kalpana, Bhavani Gandham SriLakshmi, Shukla Anju, Jagadeesh Sujatha, Kim Ok-Hwa, Nishimura Gen, Girisha Katta M

Abstract excerpt

Smith-McCort dysplasia (SMC OMIM 615222) and Dyggve-Melchior-Clausen dysplasia (DMC OMIM 223800) are allelic skeletal dysplasias caused by homozygous or compound heterozygous mutations in DYM (OMIM 607461). Both disorders share the same skeletal phenotypes characterized by spondylo-epi-metaphyseal dysplasia with distinctive lacy ilia. The difference rests on the presence or absence of intellectual disability,...

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PMID: 28127940
DOI: 10.1002/ajmg.a.38064

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DYM

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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