Mutations in STAG2 cause an X-linked cohesinopathy associated with undergrowth, developmental delay, and dysmorphia: Expanding the phenotype in males.
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| Title: | Mutations in STAG2 cause an X-linked cohesinopathy associated with undergrowth, developmental delay, and dysmorphia: Expanding the phenotype in males. |
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| Authors: | Mullegama SV; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Klein SD; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California., Signer RH; Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California., Vilain E; Department of Genomic and Precision Medicine, Children's National Hospital, Washington, District of Columbia., Martinez-Agosto JA; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California.; Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California.; UCLA Clinical Genomics Center, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California. |
| Corporate Authors: | UCLA Clinical Genomics Center; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California. |
| Source: | Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2019 Feb; Vol. 7 (2), pp. e00501. Date of Electronic Publication: 2018 Nov 16. |
| Publication Type: | Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 2324-9269 |
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| DOI: | 10.1002/mgg3.501 |
