Oro-facial-digital syndrome IX with severe microcephaly: A new variant in a genetically isolated population

American Journal of Medical Genetics, Part A

Volumn 143, Issue 24, 2007, Pages 3309-3313

  Erickson, Robert P ^a,b   Bodensteiner, John B ^c  

^a UNIVERSITY OF ARIZONA COLLEGE OF MEDICINE   (United States)

^b University of Arizona   (United States)

^c ST JOSEPH'S HOSPITAL AND MEDICAL CENTER   (United States)

Author keywords

Genetic isolates; Microcephaly; Navajo; Oro facial digital syndrome; Retinal colobomata

Indexed keywords

ANAMNESIS; CASE REPORT; CLINICAL EXAMINATION; CLINICAL FEATURE; COLOBOMA; CONFERENCE PAPER; DISEASE SEVERITY; DYSOSTOSIS; FEMALE; GENETIC IDENTIFICATION; GENETIC VARIABILITY; HUMAN; KARYOTYPE; MALE; MICROCEPHALY; NUCLEAR MAGNETIC RESONANCE IMAGING; OPHTHALMOLOGY; PHYSICAL EXAMINATION; PRIORITY JOURNAL; RETINA DISEASE;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ALLELES; CHILD; FACE; FACIES; FAMILY HEALTH; FEMALE; HUMANS; INDIANS, NORTH AMERICAN; MALE; MICROCEPHALY; OROFACIODIGITAL SYNDROMES; POPULATION GROUPS; SYNDROME;

EID: 37249038987     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31976     Document Type: Conference Paper

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