Pregnancy in an individual with mild Smith-Lemli-Opitz syndrome

Clinical Genetics

Volumn 85, Issue 5, 2014, Pages 495-497

  Ellingson, M S ^a   Wick, M J ^a   White, W M ^a   Raymond, K M ^a   Saenger, A K ^a   Pichurin, P N ^a   Wassif, C A ^b   Porter, F D ^b   Babovic Vuksanovic, D ^a  

^a MAYO CLINIC   (United States)

^b EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

7 DEHYDROCHOLESTEROL; CAMPESTEROL; CHOLESTEROL; CLOMIFENE; DESMOSTEROL; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LATHOSTEROL; LOW DENSITY LIPOPROTEIN CHOLESTEROL; PHENYLALANINE; SITOSTEROL; TRIACYLGLYCEROL;

ADULT; BODY HEIGHT; BODY MASS; BODY SURFACE; BODY WEIGHT; CASE REPORT; CHOLESTEROL BLOOD LEVEL; CLEFT PALATE; CONGENITAL MALFORMATION; EXON; FEMALE; FEMALE INFERTILITY; GENE SEQUENCE; GENETIC ANALYSIS; GESTATIONAL AGE; HEAD CIRCUMFERENCE; HUMAN; HUMAN CELL; INTRAUTERINE INSEMINATION; LETTER; MISSENSE MUTATION; MOUTH MALFORMATION; MUTATIONAL ANALYSIS; OVULATION INDUCTION; PHENOTYPE; PHYSICAL EXAMINATION; PREGNANT WOMAN; PRIMIGRAVIDA; PRIORITY JOURNAL; PUERPERIUM; RECURRENCE RISK; SHORT STATURE; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN FIBROBLAST; SMITH LEMLI OPITZ SYNDROME; SPERM DONOR; SPONTANEOUS ABORTION; SYNDACTYLY; TOOTH MALFORMATION; VOICE DISORDER; BLOOD; GENETICS; PATHOLOGY; PREGNANCY;

ADULT; FEMALE; HUMANS; PREGNANCY; SMITH-LEMLI-OPITZ SYNDROME;

EID: 84897462420     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12209     Document Type: Letter

References (4)

1. Witsch-Baumgartner M, Ciara E, Loffler J et al. Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations. Eur J Hum Genet 2001: 9 (1): 45-50.
2. Wassif CA, Krakowiak PA, Wright BS et al. Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith-Lemli-Opitz syndrome fibroblasts. Mol Genet Metab 2005: 85 (2): 96-107.
3. Bartels A, Egan N, Broadhurst DI et al. Maternal serum cholesterol levels are elevated from the 1st trimester of pregnancy: a cross-sectional study. J Obstet Gynaecol 2012: 32 (8): 747-752.
4. Zhu H, Tucker HM, Grear KE et al. A common polymorphism decreases low-density lipoprotein receptor exon 12 splicing efficiency and associates with increased cholesterol. Hum Mol Genet 2007: 16 (14): 1765-1772.