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Null variants and deletions in BRWD3 cause an X‐linked syndrome of mild–moderate intellectual disability, macrocephaly, and obesity: A series of 17 patients

American Journal of Medical Genetics Part C: Seminars in Medical Genetics
2019-12 | Journal article
DOI: 10.1002/ajmg.c.31750
Contributors: Philip J. Ostrowski; Anna Zachariou; Chey Loveday; Diana Baralle; Edward Blair; Sofia Douzgou; Michael Field; Alison Foster; Claire Kyle; Katherine Lachlan et al.
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The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients

American Journal of Medical Genetics Part C: Seminars in Medical Genetics
2019-12 | Journal article
DOI: 10.1002/ajmg.c.31749
Contributors: Philip J. Ostrowski; Anna Zachariou; Chey Loveday; Ana Beleza‐Meireles; Marta Bertoli; John Dean; Andrew G. L. Douglas; Ian Ellis; Alison Foster; John M. Graham et al.
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