Literature DB >> 29160040

FGFR1 disruption identified by whole genome sequencing in a male with a complex chromosomal rearrangement and hypogonadotropic hypogonadism.

Kaori Yamoto1, Shingo Okamoto2,3, Yasuko Fujisawa1, Maki Fukami4, Hirotomo Saitsu5, Tsutomu Ogata1,4.   

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Year:  2017        PMID： 29160040     DOI： 10.1002/ajmg.a.38535

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  1 in total

1.  Coffin-Lowry syndrome in a girl with 46,XX,t(X;11)(p22;p15)dn: Identification of RPS6KA3 disruption by whole genome sequencing.

Authors:  Kaori Yamoto; Hirotomo Saitsu; Yasuko Fujisawa; Fumiko Kato; Keiko Matsubara; Maki Fukami; Masayo Kagami; Tsutomu Ogata
Journal:  Clin Case Rep       Date:  2020-04-06
  1 in total

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