A novel KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and marcus gunn jaw-winking phenomenon

Archives of Ophthalmology

Volumn 123, Issue 9, 2005, Pages 1254-1259

  Yamada, Koki ^a,b,d   Hunter, David G ^a,c,d   Andrews, Caroline ^a,b,d   Engle, Elizabeth C ^a,b,d  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b MASSACHUSETTS GENERAL HOSPITAL   (United States)

^c Department of Ophthalmology ^*  (United States)

^d HARVARD MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

KINESIN; MOLECULAR MOTOR; KIF21A PROTEIN, HUMAN; NERVE PROTEIN;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CHILD; CLINICAL FEATURE; DNA SEQUENCE; DUANE RETRACTION SYNDROME; EYE MOVEMENT DISORDER; FACIAL NERVE PARALYSIS; GENE MUTATION; GENETIC DISORDER; GENETIC SCREENING; HUMAN; KIF 21 A GENE; MALE; MARCUS GUNN JAW WINKING PHENOMENON; MEDICAL EXAMINATION; MEDICAL RECORD; MOEBIUS SYNDROME; MUTATOR GENE; PRIORITY JOURNAL; PTOSIS; VERTICAL STRABISMUS; BLINKING; CONGENITAL MALFORMATION; EXTRAOCULAR MUSCLE; EYELID; FIBROSIS; GENETICS; INNERVATION; MANDIBLE; MUTATION; NUCLEOTIDE SEQUENCE; OPHTHALMIC NERVE; OPHTHALMOPLEGIA; PATHOLOGY; PEDIGREE; REVIEW;

BLINKING; CHILD; DNA MUTATIONAL ANALYSIS; EYELIDS; FIBROSIS; HUMANS; KINESIN; MALE; MANDIBLE; MUTATION; NERVE TISSUE PROTEINS; OCULOMOTOR MUSCLES; OPHTHALMIC NERVE; OPHTHALMOPLEGIA; PEDIGREE;

EID: 24944565999     PISSN: 00039950     EISSN: None     Source Type: Journal    
DOI: 10.1001/archopht.123.9.1254     Document Type: Article

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