Hypogonadotrophic hypogonadism, short stature, cerebellar ataxia, rod-cone retinal dystrophy, and hypersegmented neutrophils: a novel disorder or a new variant of Boucher-Neuhauser syndrome?
Jbour
A-K
AK
Mubaidin
A F
AF
Till
M
M
El-Shanti
H
H
Hadidi
A
A
Ajlouni
K M
KM
D000293:Adolescent; D000328:Adult; D001827:Body Height / Q000235:genetics / Q000502:physiology; D002524:Cerebellar Ataxia / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D015862:Choroid Diseases / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D003241:Consanguinity; D003937:Diagnosis, Differential; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D006062:Gonadotropins / Q000235:genetics / Q000378:metabolism; D006130:Growth Disorders / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D006801:Humans; D007006:Hypogonadism / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D008297:Male; D009504:Neutrophils / Q000737:chemistry / Q000378:metabolism / Q000473:pathology*; D010375:Pedigree; D012162:Retinal Degeneration / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D013577:Syndrome
D006062:Gonadotropins