Coffin‐Lowry syndrome in a girl with...

Clinical Case Reports 2020 / 06 Vol. 8; Iss. 6

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

Yamoto, Kaori, Saitsu, Hirotomo, Fujisawa, Yasuko, Kato, Fumiko, Matsubara, Keiko, Fukami, Maki, Kagami, Masayo, Ogata, Tsutomu
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Volume:
8
Journal:
Clinical Case Reports
DOI:
10.1002/ccr3.2826
Date:
June, 2020
File:
PDF, 581 KB
2020
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