Recessive mutations in COL25A1 are a cause of congenital cranial dysinnervation disorder

American Journal of Human Genetics

Volumn 96, Issue 1, 2015, Pages 147-152

  Shinwari, Jameela M A ^a   Khan, Arif ^a,b   Awad, Salma ^a   Shinwari, Zakia ^a   Alaiya, Ayodele ^a   Alanazi, Mohamad ^c   Tahir, Asma ^a   Poizat, Coralie ^a   Al Tassan, Nada ^a  

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

^b KING KHALED EYE SPECIALIST HOSPITAL   (Saudi Arabia)

^c KING SAUD UNIVERSITY   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA SECRETASE; COLLAGEN; COLLAGEN, TYPE XXV, ALPHA 1; MEMBRANE PROTEIN; TUBB3 PROTEIN; UNCLASSIFIED DRUG; COL25A1 PROTEIN, HUMAN; NONFIBRILLAR COLLAGEN; TUBB3 PROTEIN, HUMAN; TUBULIN;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CONGENITAL CRANIAL DYSINNERVATION DISORDER; EXOME; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HUMAN; LINKAGE ANALYSIS; NERVE CELL DIFFERENTIATION; NERVE FIBER; NERVOUS SYSTEM DEVELOPMENT; NEUROLOGIC DISEASE; PHENOTYPE; PRIORITY JOURNAL; RECESSIVE GENE; SYNAPTOGENESIS; CHILD; EYE MOVEMENT DISORDER; FEMALE; GENETIC LINKAGE; GENETICS; MALE; METABOLISM; MUTATION; OCULOMOTOR NERVE DISEASE;

CHILD; EXOME; FEMALE; GENES, RECESSIVE; GENETIC LINKAGE; HUMANS; MALE; MUTATION; NEUROGENESIS; NON-FIBRILLAR COLLAGENS; OCULAR MOTILITY DISORDERS; OCULOMOTOR NERVE DISEASES; PHENOTYPE; TUBULIN;

EID: 84920817732     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2014.11.006     Document Type: Article

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