brachydactyly type E1

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Summary

Literature (1)

Literature for DOID 0110972: brachydactyly type E1

Xenbase Articles Publications associated with this Disease Ontology entry or its descendants

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Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome., Wakeling E,McEntagart M,Bruccoleri M,Shaw-Smith C,Stals KL,Wakeling M,Barnicoat A,Beesley C,Hanson-Kahn AK,Kukolich M,Stevenson DA,Campeau PM,Ellard S,Elsea SH,Yang XJ,Caswell RC, HGG Adv. January 14, 2021; 2(1):2666-2477.

Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome., Wakeling E,McEntagart M,Bruccoleri M,Shaw-Smith C,Stals KL,Wakeling M,Barnicoat A,Beesley C,Hanson-Kahn AK,Kukolich M,Stevenson DA,Campeau PM,Ellard S,Elsea SH,Yang XJ,Caswell RC, HGG Adv. January 14, 2021; 2(1):2666-2477.