A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency

Journal of Medical Genetics

Volumn 50, Issue 7, 2013, Pages 431-436

  Shaheen, Ranad ^a   Ansari, Shinu ^a   Alshammari, Muneera J ^a,b   Alkhalidi, Hisham ^b   Alrukban, Hadeel ^c   Eyaid, Wafaa ^c   Alkuraya, Fowzan S ^a,b,d  

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

^b KING KHALID UNIVERSITY HOSPITAL   (Saudi Arabia)

^c KING SAUD BIN ABDULAZIZ UNIVERSITY FOR HEALTH SCIENCES   (Saudi Arabia)

^d ALFAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

CONSERVED OLIGOMERIC GOLGI 6; PEPTIDES AND PROTEINS; UNCLASSIFIED DRUG;

ANHIDROSIS; ARTICLE; BINDING SITE; CASE REPORT; CHILD; CLINICAL EVALUATION; CONGENITAL DISORDER OF GLYCOSYLATION; EXOME; FOUNDER EFFECT; GENE MAPPING; GENE MUTATION; GENETIC AND FAMILIAL DISORDERS; GENETIC VARIABILITY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; INTELLECTUAL IMPAIRMENT; MALE; PALMOPLANTAR KERATODERMA; PHYSICAL EXAMINATION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCHOOL CHILD; SEQUENCE ANALYSIS; TOOTH DISEASE; WESTERN BLOTTING;

EID: 84883197530     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2013-101527     Document Type: Article

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