Dyggve-Melchior-Clausen Syndrome Latest Advances

Find the Latest Research About Dyggve-Melchior-Clausen Syndrome

Last Updated: 09/26/2026

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Found 84 publications

Clinical characteristics and genetic analysis of a child with Dyggve-Melchior-Clausen syndrome due to variant of DYM gene

Clinical characteristics and genetic analysis of a child with Dyggve-Melchior-Clausen syndrome due to variant of DYM gene

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: June 24, 2026

Dyggve-Melchior-Clausen syndrome in three siblings: a unique case series with dual diagnosis of Down syndrome and Hirschsprung disease.

Dyggve-Melchior-Clausen syndrome in three siblings: a unique case series with dual diagnosis of Down syndrome and Hirschsprung disease.

Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: September 05, 2025

Dyggve-Melchior-Clausen Syndrome in Ecuador: Expanding Knowledge on a Rare Genetic Disorder.

Dyggve-Melchior-Clausen Syndrome in Ecuador: Expanding Knowledge on a Rare Genetic Disorder.

Journal: Genes
Published: March 24, 2025

Dyggve-Melchior-Clausen Syndrome With Celiac Disease: A Rare Entity.

Dyggve-Melchior-Clausen Syndrome With Celiac Disease: A Rare Entity.

Journal: Cureus
Published: February 10, 2025

Atypical presentation of Dyggve-Melchior-Clausen disease in a Moroccan child without developmental delay and intellectual disabilities.

Atypical presentation of Dyggve-Melchior-Clausen disease in a Moroccan child without developmental delay and intellectual disabilities.

Journal: Molecular biology reports
Published: October 30, 2024

A Rare Case of Dyggve-Melchior-Clausen Syndrome: A Case Report.

A Rare Case of Dyggve-Melchior-Clausen Syndrome: A Case Report.

Journal: Cureus
Published: August 06, 2024

Re: Propofol in Triple Trouble Kearns-Sayre Syndrome, Dyggve-Melchior-Clausen Syndrome, and Chromosome-9 Inversion.

Re: Propofol in Triple Trouble Kearns-Sayre Syndrome, Dyggve-Melchior-Clausen Syndrome, and Chromosome-9 Inversion.

Journal: Sultan Qaboos University medical journal
Published: December 14, 2023

Total Hip Arthroplasty in Dyggve-Melchior-Clausen Syndrome: Literature Review and Case Report.

Total Hip Arthroplasty in Dyggve-Melchior-Clausen Syndrome: Literature Review and Case Report.

Journal: Arthroplasty today
Published: November 12, 2023

A Novel Homozygous Nonsense Variant in the DYM Underlies Dyggve-Melchior-Clausen Syndrome in Large Consanguineous Family.

A Novel Homozygous Nonsense Variant in the DYM Underlies Dyggve-Melchior-Clausen Syndrome in Large Consanguineous Family.

Journal: Genes
Published: January 13, 2023

The family reported to have X-linked Dyggve-Melchior-Clausen syndrome instead has X-linked SEDT caused by a novel TRAPPC2 frameshift variant.

The family reported to have X-linked Dyggve-Melchior-Clausen syndrome instead has X-linked SEDT caused by a novel TRAPPC2 frameshift variant.

Journal: Clinical genetics
Published: December 02, 2022

Case Report: Precision genetic diagnosis in a case of Dyggve-Melchior-Clausen syndrome reveals paternal isodisomy and heterodisomy of chromosome 18 with imprinting clinical implications.

Case Report: Precision genetic diagnosis in a case of Dyggve-Melchior-Clausen syndrome reveals paternal isodisomy and heterodisomy of chromosome 18 with imprinting clinical implications.

Journal: Frontiers in genetics
Published: July 28, 2022

Clinical and genetic analysis of a Chinese pedigree affected with Dyggve-Melchior-Clausen syndrome due to a novel frameshift variant of DYM gene

Clinical and genetic analysis of a Chinese pedigree affected with Dyggve-Melchior-Clausen syndrome due to a novel frameshift variant of DYM gene

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: April 21, 2022
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Last Updated: 09/26/2026