Entry |
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Name |
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Type |
Loss of function
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Gene |
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Organism |
hsa_var Human gene variants (Homo sapiens)
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Variation |
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Network |
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Disease |
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Reference |
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Authors |
Edery P, Attie T, Amiel J, Pelet A, Eng C, Hofstra RM, Martelli H, Bidaud C, Munnich A, Lyonnet S |
Title |
Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). |
Journal |
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Reference |
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Authors |
Puffenberger EG, Hosoda K, Washington SS, Nakao K, deWit D, Yanagisawa M, Chakravart A |
Title |
A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. |
Journal |
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Reference |
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Authors |
Verheij JB, Kunze J, Osinga J, van Essen AJ, Hofstra RM |
Title |
ABCD syndrome is caused by a homozygous mutation in the EDNRB gene. |
Journal |
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LinkDB |
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