[HTML][HTML] Malformation syndromes due to inborn errors of cholesterol synthesis
FD Porter - The Journal of clinical investigation, 2002 - Am Soc Clin Investig
FD Porter
The Journal of clinical investigation, 2002•Am Soc Clin InvestigAddress correspondence to: Forbes D. Porter, Heritable Disorders Branch, NICHD, NIH,
Building 10, Room 9S241, 10 Center Drive, Bethesda, Maryland 20892, USA. Phone:(301)
435-4432; Fax:(301) 480-5791; E-mail: fdporter@ helix. nih. gov. Conflict of interest: No
conflict of interest has been declared. Nonstandard abbreviations used: Smith-Lemli-Opitz
syndrome (SLOS); chondrodysplasia punctata type 2 (CDPX2); congenital hemidysplasia
with ichthyosiform erythroderma/nevus and limb defects syndrome (CHILD syndrome); …
Building 10, Room 9S241, 10 Center Drive, Bethesda, Maryland 20892, USA. Phone:(301)
435-4432; Fax:(301) 480-5791; E-mail: fdporter@ helix. nih. gov. Conflict of interest: No
conflict of interest has been declared. Nonstandard abbreviations used: Smith-Lemli-Opitz
syndrome (SLOS); chondrodysplasia punctata type 2 (CDPX2); congenital hemidysplasia
with ichthyosiform erythroderma/nevus and limb defects syndrome (CHILD syndrome); …
Address correspondence to: Forbes D. Porter, Heritable Disorders Branch, NICHD, NIH, Building 10, Room 9S241, 10 Center Drive, Bethesda, Maryland 20892, USA. Phone:(301) 435-4432; Fax:(301) 480-5791; E-mail: fdporter@ helix. nih. gov. Conflict of interest: No conflict of interest has been declared. Nonstandard abbreviations used: Smith-Lemli-Opitz syndrome (SLOS); chondrodysplasia punctata type 2 (CDPX2); congenital hemidysplasia with ichthyosiform erythroderma/nevus and limb defects syndrome (CHILD syndrome); emopamil-binding protein (EBP); hydrops–ectopic calcification–moth-eaten skeletal dysplasia (HEM dysplasia); Sonic hedgehog (Shh); Indian hedgehog (Ihh); Desert hedgehog (Dhh); Alzheimer disease (AD); selective Alzheimer disease indicator 1 (seladin-1); cerebral spinal fluid (CSF); liquid gas chromatography-mass spectrometry (LGC-MS); Autism Diagnostic Interview-Revised (ADI-R).
The Journal of Clinical Investigation