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FGFR1 disruption identified by whole genome sequencing in a male with a complex chromosomal rearrangement and hypogonadotropic hypogonadism
Author(s) -
Yamoto Kaori,
Okamoto Shingo,
Fujisawa Yasuko,
Fukami Maki,
Saitsu Hirotomo,
Ogata Tsutomu
Publication year - 2018
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.38535
Subject(s) - karyotype , hypogonadotropic hypogonadism , genetics , chromosomal rearrangement , genome , biology , computer science , chromosome , gene , endocrinology , hormone