Browsing by Subject Abnormalities, Multiple
Showing results 1 to 5 of 5
Floating-Harbor syndrome in a Kuwaiti patient: a case report and literature review
Bastaki, L.; El Nabi, M.M.H.; Azab, A.S.; Gouda, S.A.; Al Wadaani, A.M.; Naguib, K.K. ( 2007 )
Joint WHO/ICBDMS/ICBD Meeting on Methodology for Birth Defects Monitoring, Sydney, 6-7 September 1991 : report. 1., Multiple malformations
Joint WHO/ICBDMS/ICBD Meeting on Methodology for Birth Defects Monitoring (1991: Sydney, Australia); World Health Organization. Hereditary Diseases Programme ( 1991 )
Sanjad Sakati syndrome: a case series from Jordan
Albaramki, J.; Akl, K.; Al Muhtaseb, A.; Al Shboul, M.; Mahmoud, T.; El Khateb, M.; Hamamy, H. ( 2012 )
Abstract
Sanjad Sakati syndrome is a rare autosomal recessive disorder that has been described in Arabs. We report 8 patients from 7 Jordanian families, 6 of whom underwent genetic testing and were found to have a 12 bp [155-166 del] deletion within the tubulin-specific chaperone E [TBCE gene] in exon 3 at lq42-43. All patients had severe growth retardation, distinct phenotypic features and hypoparathyroidism. Parental consanguinity was recorded in all families. This is the first genetically proven case series of Sanjad Sakati syndrome in Jordan
Генетические факторы врожденных аномалий: доклад Научной группы ВОЗ [на совещании, состоявшемся в Женеве с 22 по 28 октября1968]
Всемирная организация здравоохранения; Научная группа ВОЗ по генетическим факторам врожденных аномалий ( 1971 )
Руководство по предотвращению деформации при полиомиелите.
Всемирная организация здравоохранения ( 1995 )
Showing results 1 to 5 of 5