KAT6A基因变异与垂体异常。 - Suppr

Variants in KAT6A and pituitary anomalies.

作者信息

Zwaveling-Soonawala Nitash, Maas Saskia M, Alders Marielle, Majoie Charles B, Fliers Eric, van Trotsenburg A S Paul, Hennekam Raoul C M

机构信息

Department of Pediatric Endocrinology, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

出版信息

Am J Med Genet A. 2017 Sep;173(9):2562-2565. doi: 10.1002/ajmg.a.38330. Epub 2017 Jun 21.

DOI:10.1002/ajmg.a.38330

PMID:28636259

Abstract

摘要

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Variants in KAT6A and pituitary anomalies.KAT6A基因变异与垂体异常。

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Structural malformations of the brain, eye, and pituitary gland in PHACE syndrome.PHACE综合征中的脑、眼和垂体的结构畸形。

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A novel truncating variant within exon 7 of KAT6B associated with features of both Say-Barber-Bieseker-Young-Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B-related disorders.一种与Say-Barber-Bieseker-Young-Simpson综合征和生殖器髌骨综合征特征相关的KAT6B外显子7内的新型截短变异：KAT6B相关疾病临床谱连续性的进一步证据。

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Variants in KAT6A and pituitary anomalies.

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