TY  - GEN
AU  - Stephen,Joshi
AU  - Nampoothiri,Sheela
AU  - Kuppa,Srikar
AU  - Yesodharan,Dhanya
AU  - Radhakrishnan,Natasha
AU  - Gahl,William A
AU  - Malicdan,May Christine V
TI  - Novel truncating mutation in TENM3 in siblings with motor developmental delay, ocular coloboma, oval cornea, without microphthalmia
SN  - 1552-4833
PY  - 2019///1029
KW  - Coloboma
KW  - diagnosis
KW  - Cornea
KW  - abnormalities
KW  - DNA Mutational Analysis
KW  - Facies
KW  - Humans
KW  - Membrane Proteins
KW  - genetics
KW  - Microphthalmos
KW  - Motor Disorders
KW  - Mutation
KW  - Nerve Tissue Proteins
KW  - Phenotype
KW  - Siblings
KW  - Syndrome
N1  - Publication Type: Case Reports; Letter; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't; Review
UR  - https://doi.org/10.1002/ajmg.a.40658
ER  -