Smith-Lemli-Opitz syndrome among Arabs

Clinical Genetics

Volumn 82, Issue 2, 2012, Pages 165-172

  Al Owain, M ^a,b   Imtiaz, F ^a   Shuaib, T ^a   Edrees, A ^c   Al Amoudi, M ^a   Sakati, N ^a   Al Hassnan, Z ^a,b   Bamashmous, H ^d   Rahbeeni, Z ^a   Al Ameer, S ^a   Faqeih, E ^e   Meyer, B ^a   Al Hashem, A ^f   Garout, W ^d   Al Odaib, A ^a   Rashed, M ^g   Al Aama, J Y ^c,d  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b ALFAISAL UNIVERSITY   (Saudi Arabia)

^c KING ABDULAZIZ UNIVERSITY   (Saudi Arabia)

^d King Abdulaziz University   (Saudi Arabia)

^e KING FAHAD MEDICAL CITY   (Saudi Arabia)

^f Prince Sultan Military Medical City   (Saudi Arabia)

^g Pharmagene Laboratory   (Egypt)

Author keywords

3 hydroxycholesterol 7 reductase; 7 dehydrocholesterol; Arabs; Cholesterol metabolism; DHCR7; Smith Lemli Opitz syndrome

Indexed keywords

ARAB; ARTICLE; BLOOD SAMPLING; CATARACT; CHILD; CLEFT PALATE; CLINICAL ARTICLE; CONTROLLED STUDY; COR TRIATRIATUM; CORPUS CALLOSUM AGENESIS; CRYPTORCHISM; DEVELOPMENTAL DISORDER; EAR MALFORMATION; EPICANTHUS; FEMALE; GENE MUTATION; GROWTH RETARDATION; HUMAN; HYPERTELORISM; HYPOSPADIAS; INFANT; MALE; MICROGNATHIA; NEWBORN; NIPPLE MALFORMATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PTOSIS; PULMONARY VEIN OBSTRUCTION; PYLORUS STENOSIS; RETROGNATHIA; SCHOOL CHILD; SMITH LEMLI OPITZ SYNDROME; SYNDACTYLY; WEBBED NECK;

ARABS; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; EXONS; FACIES; FEMALE; HOMOZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; PEDIGREE; PHENOTYPE; SMITH-LEMLI-OPITZ SYNDROME;

EID: 84863783942     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01742.x     Document Type: Article

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