A patient with TCIRG1-related infantile osteopetrosis presenting with congenital anomalies: chance association or a case for pleiotropy?
Conway
Robert L
RL
Pediatrics and Human Development, Michigan State University, East Lansing, Michigan, USA. robert.conway@hc.msu.edu
Falk
Rena E
RE
D001842:Bone and Bones / Q000473:pathology; D000013:Congenital Abnormalities / Q000175:diagnosis* / Q000235:genetics*; D006257:Head / Q000002:abnormalities; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D010022:Osteopetrosis / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics*; D013576:Syndactyly; D014057:Tomography, X-Ray Computed; D025262:Vacuolar Proton-Translocating ATPases / Q000235:genetics*
C472421:TCIRG1 protein, human; D025262:Vacuolar Proton-Translocating ATPases