Výsledky vyhledávání - "4p microdeletion syndrome"

Akademický článek

Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects

Autor: Takanobu Inoue, Akie Nakamura, Tomoko Fuke, Kazuki Yamazawa, Shinichiro Sano, Keiko Matsubara, Seiji Mizuno, Yoshika Matsukura, Chie Harashima, Tatsuji Hasegawa, Hisakazu Nakajima, Kumi Tsumura, Zenro Kizaki, Akira Oka, Tsutomu Ogata, Maki Fukami, Masayo Kagami

Publikováno v: Clinical Epigenetics, Vol 9, Iss 1, Pp 1-10 (2017)

Abstract Background Silver-Russell syndrome (SRS) is a rare congenital disorder characterized by pre- and postnatal growth failure and dysmorphic features. Recently, pathogenic copy number variations (PCNVs) and imprinting defects other than hypometh

Externí odkaz: https://doaj.org/article/7eca2377d6064342b9054fb0551c24b9

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Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects

Autor: Kazuki Yamazawa, Tomoko Fuke, Zenro Kizaki, Yoshika Matsukura, Hisakazu Nakajima, Keiko Matsubara, Takanobu Inoue, Tsutomu Ogata, Akira Oka, Maki Fukami, Chie Harashima, Seiji Mizuno, Akie Nakamura, Masayo Kagami, Kumi Tsumura, Shinichiro Sano, Tatsuji Hasegawa

Publikováno v: Clinical Epigenetics
Clinical Epigenetics, Vol 9, Iss 1, Pp 1-10 (2017)

Background Silver-Russell syndrome (SRS) is a rare congenital disorder characterized by pre- and postnatal growth failure and dysmorphic features. Recently, pathogenic copy number variations (PCNVs) and imprinting defects other than hypomethylation o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92e9e025b2c5d9dce6c6568a54fc3b16
https://pubmed.ncbi.nlm.nih.gov/28515796

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Akademický článek

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