Femoral-tibial-digital malformations in a boy with the Japanese founder triplication of BHLHA9.
Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Eiko
E
Nagata
Department of Rehabilitation Medicine, Graduate School of Medicine, The University of Tokyo, Japan.
Nobuhiko
N
Haga
Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Yasuko
Y
Fujisawa
Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
Maki
M
Fukami
Department of Pediatric Imaging, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
Gen
G
Nishimura
Tsutomu
T
Ogata
D051792:Basic Helix-Loop-Helix Proteins / Q000235:genetics*; D058674:Chromosome Duplication; D055028:Comparative Genomic Hybridization; D005269:Femur / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000378:metabolism; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011379:Prognosis; D011859:Radiography; D013977:Tibia / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000378:metabolism
D051792:Basic Helix-Loop-Helix Proteins; C571985:BHLHA9 protein, human