 | | VARIANT: 92335v1 | |
| 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 |
| H01112 | Polyhydramnios, megalencephaly, and symptomatic epilepsy |
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| Reference |
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| Authors |
Puffenberger EG, Strauss KA, Ramsey KE, Craig DW, Stephan DA, Robinson DL, Hendrickson CL, Gottlieb S, Ramsay DA, Siu VM, Heuer GG, Crino PB, Morton DH |
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| Title |
Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5. |
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| Journal |
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| Reference |
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| Authors |
Aerden M, Vallaeys L, Holvoet M, De Waele L, Van Den Bogaert K, Devriendt K |
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| Title |
Homozygous missense STRADA mutation in a patient with polyhydramnios, megalencephaly and symptomatic epilepsy syndrome. |
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| Journal |
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| LinkDB |
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