Disorders of sterol synthesis: beyond Smith-Lemli-Opitz syndrome.

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Disorders of sterol synthesis: beyond Smith-Lemli-Opitz syndrome.

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Disorders of sterol synthesis: beyond Smith-Lemli-Opitz syndrome.

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Disorders of sterol synthesis: beyond Smith-Lemli-Opitz syndrome.

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P1476

Disorders of sterol synthesis: beyond Smith-Lemli-Opitz syndrome.

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Gail E Herman

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Lisa Kratz

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P2860

The human lamin B receptor/sterol reductase multigene family

Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome

Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis

Desmosterolosis presenting with multiple congenital anomalies and profound developmental delay

Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase

Cholesterol metabolism is required for intracellular hedgehog signal transduction in vivo

Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome

Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency

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scholarly article

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10.1002/AJMG.C.31340

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2012-10-05T00:00:00Z

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23042573

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