Chromosome 17q12 Deletion Syndrome

Chromosome 17q12 Deletion Syndrome(来自ICD-11)
别称:
17q12 Microdeletion Syndrome
Monosomy 17q12
Del(17)(q12)
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Chromosome 17q12 Deletion Syndrome, also known as 17q12 microdeletion syndrome, is related to chromosome 17q12 duplication syndrome and mayer-rokitansky-kuster-hauser syndrome. An important gene associated with Chromosome 17q12 Deletion Syndrome is DEL17Q12 (Chromosome 17q12 Deletion Syndrome), and among its related pathways/superpathways are 17q12 copy number variation syndrome and Markers of kidney cell lineage. Affiliated tissues include kidney and liver, and related phenotypes are multicystic kidney dysplasia and diabetes mellitus
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参考文献
MALACARDS
AD
Unknown
1-9/1000000
15
69
10

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