Macrothrombocytopenia, psychomotor retardation, and nephropathy: a novel familial syndrome.
Department of Pediatrics, Jordan University Hospital, College of Medicine, University of Jordan, Amman, Jordan.
Kamal F
KF
Akl
Abdul Karim
AK
Qudah
Abdalla
A
Awidi
Mohammad Jaber
MJ
Suleiman
Nidaa
N
Ababneh
Nazzal
N
Bsoul
Ahmad
A
Magablah
D000293:Adolescent; D041923:Adolescent Development; D002648:Child; D002657:Child Development; D005260:Female; D020022:Genetic Predisposition to Disease; D040941:Heredity; D006801:Humans; D006973:Hypertension / Q000175:diagnosis / Q000235:genetics; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D007674:Kidney Diseases / Q000151:congenital / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D010375:Pedigree; D010641:Phenotype; D011507:Proteinuria / Q000175:diagnosis / Q000235:genetics; D011596:Psychomotor Disorders / Q000151:congenital / Q000175:diagnosis / Q000235:genetics*; D013064:Speech Disorders / Q000175:diagnosis / Q000235:genetics; D013577:Syndrome; D013921:Thrombocytopenia / Q000151:congenital / Q000175:diagnosis / Q000235:genetics*