Chromosomal and related Mendelian syndromes associated with Hirschsprung's disease.

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Chromosomal and related Mendelian syndromes associated with Hirschsprung's disease.

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Chromosomal and related Mendelian syndromes associated with Hirschsprung's disease.

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Chromosomal and related Mendelian syndromes associated with Hirschsprung's disease.

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P1476

Chromosomal and related Mendelian syndromes associated with Hirschsprung's disease.

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P2093

S W Moore

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P2860

Mowat-Wilson syndrome

A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction

Down syndrome and the enteric nervous system

Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease

Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23

Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.

Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.

Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures.

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s00383-012-3175-6

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1045-1058

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scholarly article

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10.1007/S00383-012-3175-6

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2012-09-23T00:00:00Z

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1051420814

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23001136

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