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Q38284924-6C747035-B210-4BD1-B9BF-7833BDC2E06A
Q38284924-6C747035-B210-4BD1-B9BF-7833BDC2E06A
BestRank
Statement
http://www.wikidata.org/entity/statement/Q38284924-6C747035-B210-4BD1-B9BF-7833BDC2E06A
A de novo 10.79 Mb interstitial deletion at 2q13q14.2 involving PAX8 causing hypothyroidism and mullerian agenesis: a novel case report and literature review.
P2860
Q38284924-6C747035-B210-4BD1-B9BF-7833BDC2E06A
BestRank
Statement
http://www.wikidata.org/entity/statement/Q38284924-6C747035-B210-4BD1-B9BF-7833BDC2E06A
rank
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type
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Statement
wasDerivedFrom
d90d13a443e6513e1715cb96bb1d61cd11d782fd
P2860
Functional analysis of candidate genes in 2q13 deletion syndrome implicates FBLN7 and TMEM87B deficiency in congenital heart defects and FBLN7 in craniofacial malformations.