A newly recognized autosomal recessive syndrome affecting neurologic function and vision

American Journal of Medical Genetics, Part A

Volumn 161, Issue 6, 2013, Pages 1207-1213

  Salih, Mustafa A ^a   Tzschach, Andreas ^b   Oystreck, Darren T ^a   Hassan, Hamdy H ^a   Aldrees, Abdulmajeed ^a   Elmalik, Salah A ^a   El Khashab, Heba Y ^a   Wienker, Thomas F ^c   Abu Amero, Khaled K ^a   Bosley, Thomas M ^a  

^a KING SAUD UNIVERSITY   (Saudi Arabia)

^b UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^c MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

Author keywords

Brain malformation; C12orf57 gene; Chorioretinal coloboma; Corpus callosum; Epilepsy; Intellectual disability; Iris coloboma; Neurodegeneration; Neurogenetic disease; Staphyloma

Indexed keywords

CARBAMAZEPINE; TOPIRAMATE;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; C12ORF57 GENE; CATARACT; CHILD; CLINICAL ARTICLE; COGNITIVE DEFECT; CONVERGENT STRABISMUS; CORPUS CALLOSUM AGENESIS; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; DISEASE SEVERITY; ENOPHTHALMOS; EYE MALFORMATION; FEMALE; FUNCTIONAL ASSESSMENT; GENE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INTELLECTUAL IMPAIRMENT; IRIS COLOBOMA; LANGUAGE DISABILITY; MAGNETIC RESONANCE ANGIOGRAPHY; MALE; MOTOR DYSFUNCTION; NERVOUS SYSTEM FUNCTION; NYSTAGMUS; PHENOTYPIC VARIATION; PRIORITY JOURNAL; PTOSIS; RETINA DETACHMENT; SCHOOL CHILD; SEIZURE; SPASTICITY; VISUAL SYSTEM FUNCTION; CASE REPORT; CHROMOSOMAL MAPPING; CHROMOSOME DISORDER; DEMYELINATING DISEASE; DNA SEQUENCE; FOLLOW UP; GENETICS; GENOTYPE; HIGH THROUGHPUT SEQUENCING; HOMOZYGOTE; PEDIGREE; POINT MUTATION; PRESCHOOL CHILD; RADIOGRAPHY; SAUDI ARABIA; SIBLING; VISUAL DISORDER;

ADOLESCENT; AMINO ACID SUBSTITUTION; CHILD, PRESCHOOL; CHROMOSOME DISORDERS; CHROMOSOME MAPPING; COGNITION DISORDERS; FEMALE; FOLLOW-UP STUDIES; GENOTYPE; HEREDODEGENERATIVE DISORDERS, NERVOUS SYSTEM; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HOMOZYGOTE; HUMANS; INTELLECTUAL DISABILITY; MALE; PEDIGREE; POINT MUTATION; SAUDI ARABIA; SEQUENCE ANALYSIS, DNA; SIBLINGS; VISION DISORDERS;

EID: 84878217563     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35850     Document Type: Article

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