Výsledky vyhledávání - "Zyndia Compean"

Partial Trisomy 13q/Monosomy 3p Resulting from a Paternal Reciprocal 3p;13q Translocation in a Boy with Facial Dysmorphism and Hypertrophic Cardiomyopathy

Autor: Zyndia Compean, Mónica D Martín-De Saro, Sergio Alberto Cuevas-Covarrubiass, Lautaro Plaza-Benhumea, Karina Aguilar, Luz María González-Huerta, Olga Messina-Baas

Publikováno v: Mol Syndromol

Individuals with 3p deletion show a great clinical variability. Apparently, a 1.5-Mb terminal deletion, including the CRBN and CNTN4 genes, is sufficient to cause this syndrome. Partial trisomy 13q is a rare chromosomal abnormality with a variable ph

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d930c46f6b6570f0d2ea3a1cb48475bd
https://doi.org/10.1159/000516058

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Akademický článek

Partial Trisomy 13q/Monosomy 3p Resulting from a Paternal Reciprocal 3p;13q Translocation in a Boy with Facial Dysmorphism and Hypertrophic Cardiomyopathy.

Autor: Martin-de Saro, Monica, Compean, Zyndia, Aguilar, Karina, González-Huerta, Luz María, Plaza-Benhumea, Lautaro, Messina-Baas, Olga, Cuevas-Covarrubiass, Sergio Alberto

Publikováno v: Molecular Syndromology; 2021, Vol. 12 Issue 5, p305-311, 7p

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