Late manifestations of tricho-rhino-pharangeal syndrome in a patient: Expanded skeletal phenotype in adulthood.
Izumi
Kosuke
K
Center for Human Genetics, University Hospitals Case Medical Center, Cleveland, Ohio, USA.
Takagi
Masaki
M
Parikh
Aditi S
AS
Hahn
Amanda
A
Miskovsky
Shana N
SN
Nishimura
Gen
G
Torii
Chiharu
C
Kosaki
Kenjiro
K
Hasegawa
Tomonobu
T
Neilson
Derek E
DE
D000328:Adult; D017668:Age of Onset; D000595:Amino Acid Sequence; D001842:Bone and Bones / Q000002:abnormalities* / Q000473:pathology; D004268:DNA-Binding Proteins / Q000235:genetics*; D006801:Humans; D015826:Langer-Giedion Syndrome / Q000235:genetics / Q000473:pathology*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D012097:Repressor Proteins; D017386:Sequence Homology, Amino Acid; D014157:Transcription Factors / Q000235:genetics*
D004268:DNA-Binding Proteins; D012097:Repressor Proteins; C108387:TRPS1 protein, human; D014157:Transcription Factors