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Am J Med Genet A. 2018 Dec;176(12):2930-2933. doi: 10.1002/ajmg.a.40658. Epub 2018 Dec 4.

Novel truncating mutation in TENM3 in siblings with motor developmental delay, ocular coloboma, oval cornea, without microphthalmia.

Author information

1
Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
2
Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Center, Cochin, Kerala, India.
3
NIH Undiagnosed Diseases Program, NHGRI, National Institutes of Health, Bethesda, Maryland.
4
Department of Ophthalmology, Amrita Institute of Medical Sciences and Research Center, Cochin, Kerala, India.
5
Office of the Clinical Director, NHGRI, National Institutes of Health, Bethesda, Maryland.
PMID:
30513139
DOI:
10.1002/ajmg.a.40658

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