منابع مشابه
Alagille syndrome: family studies.
Alagille syndrome (AGS) is one of the major forms of chronic liver disease in childhood with severe morbidity and a mortality of 10 to 20%. It is characterised by cholestasis of variable severity with paucity of interlobular bile ducts and anomalies of the cardiovascular system, skeleton, eyes, and face. Previous studies suggest a wide variation in the expression of the disease and a high incid...
متن کاملMania with Aarskog-Scott syndrome.
Aarskog-Scott syndrome is transmitted as an X-linked trait and affects males. We report a 10-year-old boy presenting with complaints of increased temper tantrums, demanding behavior, grandiose ideas, over familiarity, abusive assaultive behavior and tobacco abuse. On examination, patient had most of the physical characteristics of Aarskog-Scott Syndrome. He also had global developmental delay a...
متن کاملA novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE
BACKGROUND The X-linked condition "Aarskog-Scott syndrome (AAS)" causes a characteristic combination of short stature, facial, genital and skeletal anomalies. Studies elucidated a causative link between AAS and mutations in the FGD1 gene, which encodes a Rho/Rac guanine exchange factor. FGD1 is involved in regulating signaling pathways that control cytoskeleton organization and embryogenesis. ...
متن کاملWaardenburg Syndrome in an Arab Family
By Laman Amin -ZaKI (Baghdad), The Journal of Laryngology and Otology, 1971.
متن کاملJoseph Scott to head Black Studies
Dr. Joseph W. S cott, an associate professor o f sociology at the U n ivers ity o f To ledo , has been named an associate profes sor o f sociology and d irec to r o f the new Black Studies Program at the U n ivers ity o f N o tre Dame. The 35-year-old sociologist w ill head the Black Studies Program recently established w ith in the U n ive rs ity ’s College o f A rts and Letters and scheduled...
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ژورنال
عنوان ژورنال: Blood
سال: 1997
ISSN: 1528-0020,0006-4971
DOI: 10.1182/blood.v90.1.475