Hydrolethalus syndrome, in contrast to Smith-Lemli-Opitz syndrome, is not due to a defect in post-squalene cholesterol biosynthesis: A case report [3]

Dinesh Rakheja, Beverly B. Rogers, Rene L Galindo, Philip J. Boyer, Michael L. Cimo, Ronald M. Ramus, Michael J. Bennett

Research output: Contribution to journalArticle

2 Citations (Scopus)
Original languageEnglish (US)
Pages (from-to)212-213
Number of pages2
JournalAmerican Journal of Medical Genetics
Volume129
Issue number2
StatePublished - Aug 30 2004

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Smith-Lemli-Opitz Syndrome
Craniofacial Abnormalities
Multiple Abnormalities
Squalene
Polydactyly
Polyhydramnios
Congenital Heart Defects
Sterols
Pregnancy Outcome
Gas Chromatography-Mass Spectrometry
Central Nervous System
Cholesterol
Pregnancy
Liver
Hydrolethalus syndrome

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Hydrolethalus syndrome, in contrast to Smith-Lemli-Opitz syndrome, is not due to a defect in post-squalene cholesterol biosynthesis : A case report [3]. / Rakheja, Dinesh; Rogers, Beverly B.; Galindo, Rene L; Boyer, Philip J.; Cimo, Michael L.; Ramus, Ronald M.; Bennett, Michael J.

In: American Journal of Medical Genetics, Vol. 129, No. 2, 30.08.2004, p. 212-213.

Research output: Contribution to journalArticle

Rakheja, Dinesh ; Rogers, Beverly B. ; Galindo, Rene L ; Boyer, Philip J. ; Cimo, Michael L. ; Ramus, Ronald M. ; Bennett, Michael J. / Hydrolethalus syndrome, in contrast to Smith-Lemli-Opitz syndrome, is not due to a defect in post-squalene cholesterol biosynthesis : A case report [3]. In: American Journal of Medical Genetics. 2004 ; Vol. 129, No. 2. pp. 212-213.
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