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Q33784356-0FC08F42-37C5-4013-9EB4-AA1E14C8C283
Q33784356-0FC08F42-37C5-4013-9EB4-AA1E14C8C283
BestRank
Statement
http://www.wikidata.org/entity/statement/Q33784356-0FC08F42-37C5-4013-9EB4-AA1E14C8C283
A non-mosaic PORCN mutation in a male with severe congenital anomalies overlapping focal dermal hypoplasia.
P2860
Q33784356-0FC08F42-37C5-4013-9EB4-AA1E14C8C283
BestRank
Statement
http://www.wikidata.org/entity/statement/Q33784356-0FC08F42-37C5-4013-9EB4-AA1E14C8C283
rank
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Statement
wasDerivedFrom
8bbd1a1d945d92a87b8df6cd188ab76dc5e97061
P2860
Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia.