Výsledky vyhledávání - "Intragenicdeletion"

Less Frequent NSD1-Intragenic Deletions in Japanese Sotos Syndrome: Analysis of 30 Patients by NSD1-Exon Array CGH, Quantitative Fluorescent Duplex PCR, and Fluorescence In Situ Hybridization

Autor: Sosonkina, Nadiya, Miyake, Noriko, Harada, Naoki, Starenki, Dmytro, Ohta, Tohru, Fukushima, Yoshimitsu, Kosho, Tomoki, Niikawa, Norio, Matsumoto, Naomichi

Publikováno v: Acta medica Nagasakiensia. 52(1):29-34

Sotos syndrome (SoS, OMIM #117550) is an autosomal dominant overgrowth syndrome with pre- and postnatal excessive growth, characteristic craniofacial features, and variable degrees of developmental delay. Haploinsufficiency of the nuclear receptor bi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::28ed32816a27cf351edc0f379d45d044
https://nagasaki-u.repo.nii.ac.jp/records/22662

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