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Article

Expanding the phenotypic spectrum of COLEC10-Related 3MC syndrome: A glimpse into COLEC10-Related 3MC syndrome in the Ashkenazi Jewish population.

American journal of medical genetics. Part A - 1 Oct 2022

Rabin Rachel, Hirsch Yoel, Chung Wendy K, Ekstein Josef, Levy-Lahad Ephrat, Zuckerman Shachar, Mor-Shaked Hagar, Meiner Vardiella, Booth Kevin T, Pappas John

Abstract excerpt

Bi-allelic variants in COLEC11 and MASP1 have been associated with 3MC syndrome, a clinical entity made of up four rare autosomal recessive disorders: Carnevale, Mingarelli, Malpuech, and Michels syndromes, characterized by variable expression of facial dysmorphia, cleft lip/palate, postnatal growth deficiency, hearing loss, cognitive impairment, craniosynostosis, radioulnar synostosis, and genital and...

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PMID: 35943032
DOI: 10.1002/ajmg.a.62943

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Expanding the phenotypic spectrum of COLEC10-Related 3MC syndrome: A glimpse into COLEC10-Related 3MC syndrome in the Ashkenazi Jewish population.PMID 35943032Read ↗

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3MC syndrome: molecular findings in previously reported and milder patients expand the natural history and phenotypic spectrum.Semantic proximity Read ↗

Exploring the genetic basis of 3MC syndrome: Findings in 12 further families.Semantic proximity Read ↗

COLEC10 is mutated in 3MC patients and regulates early craniofacial development.Semantic proximity Read ↗

A novel COLEC10 mutation in a child with 3MC syndrome.Semantic proximity Read ↗

Association of Polymorphisms of MASP1/3, COLEC10, and COLEC11 Genes with 3MC Syndrome.Semantic proximity Read ↗

Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome.Semantic proximity Read ↗

Sacral protuberance with cleft lip and palate: Prenatal presentation of 3MC syndrome.Semantic proximity Read ↗

Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation.Semantic proximity Read ↗

MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes.Semantic proximity Read ↗

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