Definition of a critical genetic interval related to kidney abnormalities in the Potocki-Lupski syndrome
Definition of a critical genetic interval related to kidney abnormalities in the Potocki-Lupski syndrome
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DOI：
10.1002/ajmg.a.35399
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发表时间：
2012-07-01
影响因子：
2
通讯作者：
Mendoza-Londono, Roberto
中科院分区：
文献类型：
--
作者：
Goh, Elaine Suk-Ying;Perez, Irene C.;Mendoza-Londono, Roberto
POTOKKI Lupski综合征是一种由17p11.2重复引起的基因组疾病。它的特征是无法茁壮成长、智力残疾、低眼压和行为障碍。已观察到结构性肾脏异常
PotockiLupski syndrome is a genomic disorder caused by duplication of 17p11.2. It is characterized by failure to thrive, intellectual disability, hypotonia, and behavioral difficulties. Structural renal anomalies have been observed in