Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development

Nature Genetics

Volumn 37, Issue 10, 2005, Pages 1035-1037

  Tischfield, Max A ^a,b   Bosley, Thomas M ^c,d   Salih, Mustafa A M ^e   Alorainy, Ibrahim A ^f   Sener, Emin C ^g   Nester, Michael J ^d   Oystreck, Darren T ^c   Chan, Wai Man ^a   Andrews, Caroline ^a   Erickson, Robert P ^h   Engle, Elizabeth C ^a,b  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c KING KHALED EYE SPECIALIST HOSPITAL   (Saudi Arabia)

^d KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^e KING KHALID UNIVERSITY HOSPITAL   (Saudi Arabia)

^f KING SAUD UNIVERSITY   (Saudi Arabia)

^g HACETTEPE UNIVERSITY   (Turkey)

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

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; HOX PROTEIN; HOXA1 PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; AUTISM; AUTOSOMAL RECESSIVE DISORDER; BOSLEY SALIH ALORAINY SYNDROME; BRAIN DEVELOPMENT; BRAIN STEM; CARDIOVASCULAR SYSTEM; CENTRAL NERVOUS SYSTEM FUNCTION; CLINICAL ARTICLE; CLINICAL FEATURE; COGNITION; CONGENITAL BLOOD VESSEL MALFORMATION; CONSANGUINITY; DUANE RETRACTION SYNDROME; ETHNOLOGY; EYE MOVEMENT; EYE MOVEMENT DISORDER; FACIAL NERVE PARALYSIS; GAZE; GENE DISRUPTION; GENE MUTATION; GENETIC ISOLATION BY DISTANCE; HEARING IMPAIRMENT; HEART OUTPUT; HOMOZYGOSITY; HOX GENE; HUMAN; HYPOVENTILATION; INNER EAR; INTERNAL CAROTID ARTERY; MENTAL DEFICIENCY; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; SAUDI ARABIA; SINGLE NUCLEOTIDE POLYMORPHISM;

AUTISTIC DISORDER; BRAIN STEM; CARDIOVASCULAR ABNORMALITIES; CAROTID ARTERY, INTERNAL; COGNITION DISORDERS; DEAFNESS; EAR, INNER; HOMEODOMAIN PROTEINS; HOMOZYGOTE; HUMANS; MENTAL RETARDATION; OCULAR MOTILITY DISORDERS; SAUDI ARABIA; SYNDROME; TRANSCRIPTION FACTORS; TURKEY;

EID: 27144541072     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng1636     Document Type: Article

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