Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features

BMC Medical Genetics

Volumn 16, Issue 1, 2015, Pages

  Rafiq, Muhammad Arshad ^a,r   Leblond, Claire S ^b,s   Saqib, Muhammad Arif Nadeem ^c   Vincent, Akshita K ^a   Ambalavanan, Amirthagowri ^b,s   Khan, Falak Sher ^c   Ayaz, Muhammad ^d   Shaheen, Naseema ^e   Spiegelman, Dan ^b,s   Ali, Ghazanfar ^f   Amin ud din, Muhammad ^e   Laurent, Sandra ^b,s   Mahmood, Huda ^a   Christian, Mehtab ^b   Ali, Nadir ^c   Fennell, Alanna ^a   Nanjiani, Zohair ^g   Egger, Gerald ^a,h   Caron, Chantal ^i,j   Waqas, Ahmed ^c   Ayub, Muhammad ^d,k   Rasheed, Saima ^l   Forgeot d'Arc, Baudouin ^i,j,m   Johnson, Amelie ^j,m   So, Joyce ^a,n,o   Brohi, Muhammad Qasim ^p   Mottron, Laurent ^i,j,m   Ansar, Muhammad ^c   Vincent, John B ^a,q   Xiong, Lan ^b,j,m   more..

^a CENTRE FOR ADDICTION AND MENTAL HEALTH   (Canada)

^b NOTRE DAME HOSPITAL   (Canada)

^c QUAID I AZAM UNIVERSITY   (Pakistan)

^d Lahore Institute of Research and Development   (Pakistan)

^e UNIVERSITY OF EDUCATION   (Pakistan)

^f UNIVERSITY OF AZAD JAMMU AND KASHMIR   (Pakistan)

^g Ma Ayesha Memorial Centre   (Pakistan)

^h MEDICAL UNIVERSITY OF GRAZ   (Austria)

ⁱ Hopital Riviere des Prairies   (Canada)

^j UNIVERSITÉ DE MONTRÉAL   (Canada)

^k QUEEN S UNIVERSITY   (Canada)

^l Autism Institute   (Pakistan)

^m CENTRE DE RECHERCHE DE L INSTITUT UNIVERSITAIRE EN SANTÉ MENTALE DE MONTRÉAL   (Canada)

ⁿ UNIVERSITY HEALTH NETWORK   (Canada)

^o UNIVERSITY OF TORONTO   (Canada)

^p Sir CJ Institute of Psychiatry   (Pakistan)

^q UNIVERSITY OF TORONTO   (Canada)

^r HOSPITAL FOR SICK CHILDREN   (Canada)

^s MCGILL UNIVERSITY   (Canada)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTISM; AUTOSOMAL RECESSIVE DISORDER; BALOCH (PEOPLE); CHILD; CLINICAL ARTICLE; CLINICAL ASSESSMENT; CLINICAL FEATURE; COHEN SYNDROME; COMPARATIVE STUDY; CONTROLLED STUDY; EXON; EYE DISEASE; FACE MALFORMATION; FEMALE; GENE; GENE DELETION; GENE MAPPING; GENE SEQUENCE; GENETIC ASSOCIATION; HAPLOTYPE; HOMOZYGOSITY; HUMAN; INTELLECTUAL IMPAIRMENT; MALE; MIDDLE AGED; MUTATIONAL ANALYSIS; NEUROLOGIC DISEASE; NIGHT BLINDNESS; PAKISTANI; PHENOTYPIC VARIATION; RETINA DYSTROPHY; SANGER SEQUENCING; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; VISUAL IMPAIRMENT; VPS13B GENE; WHOLE EXOME SEQUENCING; YOUNG ADULT; CASE REPORT; CLASSIFICATION; CONGENITAL MALFORMATION; DEVELOPMENTAL DISORDER; DNA SEQUENCE; ETHNOLOGY; FINGER; GENETICS; GENOTYPE; HOMOZYGOTE; MICROCEPHALY; MOLECULAR GENETICS; MULTIPLE MALFORMATION SYNDROME; MUSCLE HYPOTONIA; MYOPIA; NUCLEOTIDE SEQUENCE; OBESITY; PAKISTAN; PATHOLOGY; PEDIGREE; PHENOTYPE; RECESSIVE GENE;

VESICULAR TRANSPORT PROTEIN; VPS13B PROTEIN, HUMAN;

ABNORMALITIES, MULTIPLE; AUTISTIC DISORDER; BASE SEQUENCE; DEVELOPMENTAL DISABILITIES; FEMALE; FINGERS; GENES, RECESSIVE; GENOTYPE; HAPLOTYPES; HOMOZYGOTE; HUMANS; INTELLECTUAL DISABILITY; MALE; MICROCEPHALY; MOLECULAR SEQUENCE DATA; MUSCLE HYPOTONIA; MYOPIA; OBESITY; PAKISTAN; PEDIGREE; PHENOTYPE; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION; VESICULAR TRANSPORT PROTEINS;

EID: 84933512215     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/s12881-015-0183-0     Document Type: Article

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