HACE1deficiency causes an autosomal recessive neurodevelopmental syndrome

Author:

Hollstein Ronja,Parry David A,Nalbach Lisa,Logan Clare V,Strom Tim M,Hartill Verity L,Carr Ian M,Korenke Georg C,Uppal Sandeep,Ahmed Mushtaq,Wieland Thomas,Markham Alexander F,Bennett Christopher P,Gillessen-Kaesbach Gabriele,Sheridan Eamonn G,Kaiser Frank J,Bonthron David T

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference29 articles.

1. The diverse genetic landscape of neurodevelopmental disorders;Hu;Annu Rev Genomics Hum Genet,2014

2. A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis;Ahram;Am J Hum Genet,2009

3. Large-scale discovery of novel genetic causes of developmental disorders;Deciphering Developmental Disorders Study;Nature,2015

4. GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue caused by de novo variants in HNRNPK;Au;Hum Mutat

5. Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families;Carr;Hum Mutat,2006

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