A novel oculo-oto-facial dysplasia in a Native Alaskan community with autosomal recessive inheritance

American Journal of Medical Genetics

Volumn 140 A, Issue 8, 2006, Pages 804-812

  Hing, Anne V ^a   LeBlond, Christy ^b   Sze, Raymond W ^c   Starr, Jacqueline K ^a   Monks, Stephanie ^d   Parisi, Melissa A ^a  

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^b Division of Public Health ^*  (United States)

^c CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^d OKLAHOMA STATE UNIVERSITY   (United States)

Author keywords

Autosomal recessive; Choanal atresia; Cleft lip; Eyelid coloboma; Hearing loss; Imperforate anus; Miller syndrome; Oculo oto facial dysplasia; Treacher Collins syndrome

Indexed keywords

ADULT; ANUS ATRESIA; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BONE RADIOGRAPHY; CASE REPORT; CHOANA ATRESIA; CLEFT FACE; COLOBOMA; DYSPLASIA; ESKIMO; EXTERNAL EAR MALFORMATION; EYE MALFORMATION; FACE MALFORMATION; FEMALE; HEARING LOSS; HUMAN; INTELLECT; KIDNEY DYSPLASIA; MALE; MANDIBLE HYPOPLASIA; MANDIBULOFACIAL DYSOSTOSIS; MILLER FINEMAN SMITH SYNDROME; PEDIGREE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; UNITED STATES; ZYGOMA;

ADULT; ALASKA; CHILD; CHILD, PRESCHOOL; EAR; EYE ABNORMALITIES; FACIAL BONES; FEMALE; GENES, RECESSIVE; HEARING LOSS; HUMANS; INFANT; INUITS; MALE; PEDIGREE; TOMOGRAPHY, X-RAY COMPUTED;

EID: 33645574128     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31160     Document Type: Article

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