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Q53169876-4BEE5C5E-6BA8-41C4-916E-F21403B285C2
Q53169876-4BEE5C5E-6BA8-41C4-916E-F21403B285C2
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http://www.wikidata.org/entity/statement/Q53169876-4BEE5C5E-6BA8-41C4-916E-F21403B285C2
Lin-Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related disorders.
P2860
Q53169876-4BEE5C5E-6BA8-41C4-916E-F21403B285C2
BestRank
Statement
http://www.wikidata.org/entity/statement/Q53169876-4BEE5C5E-6BA8-41C4-916E-F21403B285C2
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wasDerivedFrom
098984c39d2d3621b701beda0e09adab6dd950f1
P2860
A patient showing features of both SBBYSS and GPS supports the concept of a KAT6B-related disease spectrum, with mutations in mid-exon 18 possibly leading to combined phenotypes.