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

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Bibliographic Details
Published inAmerican journal of medical genetics. Part A Vol. 176; no. 12; pp. 2930 - 2933
Main Authors Stephen, Joshi, Nampoothiri, Sheela, Kuppa, Srikar, Yesodharan, Dhanya, Radhakrishnan, Natasha, Gahl, William A., Malicdan, May Christine V.
Format Journal Article
LanguageEnglish
Published Hoboken, USA John Wiley & Sons, Inc 01.12.2018
Wiley Subscription Services, Inc
Subjects
Cornea
Microphthalmia
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ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.40658