Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia

American Journal of Medical Genetics

Volumn 116, Issue 3, 2003, Pages 215-221

  Schimmenti, Lisa A ^a   De la Cruz, June ^a   Lewis, Richard Alan ^a   Karkera, J D ^a   Manligas, Glenda S ^a   Roessler, Erich ^a   Muenke, Maximilian ^a  

^a NONE

Author keywords

Coloboma; Microphthalmia; PAX2; Sonic hedgehog

Indexed keywords

SONIC HEDGEHOG PROTEIN;

ARTICLE; CASE REPORT; COLOBOMA; GENE DELETION; GENE MUTATION; HOLOPROSENCEPHALY; HUMAN; IRIS COLOBOMA; KIDNEY DISEASE; MALE; MICROPHTHALMIA; MOUSE; NONHUMAN; OPTIC NERVE; PHENOTYPE; PRIORITY JOURNAL; RETINA; VISUAL IMPAIRMENT; ZEBRA FISH;

DANIO RERIO; ERINACEIDAE;

EID: 0037221992     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.10884     Document Type: Article

References (37)

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