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Article

Clinical, radiological and molecular studies in 24 individuals with Dyggve-Melchior-Clausen dysplasia and Smith-McCort dysplasia from India.

Journal of medical genetics - 1 Feb 2023

Varshney Kruti, Narayanachar Sanjeeva Ghanti, Girisha Katta M, Bhavani Gandham SriLakshmi, Narayanan Dhanyalakshmi, Phadke Shubha, Nampoothiri Sheela, Udupi Gautham Arunachal, Raghupathy Palany, Nair Mohandas, Geetha Thenral S, Bhat Meenakshi

Abstract excerpt

BACKGROUND: Dyggve-Melchior-Clausen dysplasia (DMC) and Smith-McCort dysplasia (SMC types 1 and 2) are rare spondyloepimetaphyseal dysplasias with identical radiological findings. The presence of intellectual disability in DMC and normal intellect in SMC differentiates the two. DMC and SMC1 are allelic and caused by homozygous or compound heterozygous variants in DYM. SMC2 is caused by variations in RAB33B. Both...

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PMID: 35477554
DOI: 10.1136/jmedgenet-2021-108098

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