Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.12Ds

Journal of Medical Genetics

Volumn 50, Issue 2, 2013, Pages 80-90

  McDonald McGinn, Donna M ^a   Fahiminiya, Somayyeh ^b   Revil, Timothée ^b   Nowakowska, Beata A ^c   Suhl, Joshua ^d   Bailey, Alice ^a   Mlynarski, Elisabeth ^a   Lynch, David R ^a   Yan, Albert C ^a   Bilaniuk, Larissa T ^a   Sullivan, Kathleen E ^a   Warren, Stephen T ^d   Emanuel, Beverly S ^a   Vermeesch, Joris R ^e   Zackai, Elaine H ^a   Jerome Majewska, Loydie A ^b,f  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b MCGILL UNIVERSITY   (Canada)

^c INSTITUTE OF MOTHER AND CHILD   (Poland)

^d EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e UNIVERSITY OF LEUVEN   (Belgium)

^f MONTREAL CHILDREN S HOSPITAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; MEMBRANE PROTEIN; SNAP29 PROTEIN; SNARE PROTEIN; UNCLASSIFIED DRUG;

AMBLYOPIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CEREBRAL DYSGENESIS NEUROPATHY ICHTHYOSIS AND KERATODERMA SYNDROME; CHROMOSOME ANALYSIS; CHROMOSOME DELETION 22Q11; CONVERGENT STRABISMUS; CRANIOFACIAL MALFORMATION; ENDOPLASMIC RETICULUM; EXOME; FRAMESHIFT MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOME ANALYSIS; HEMIZYGOSITY; HUMAN; HYPOCALCEMIA; INGUINAL HERNIA; KOUSSEFF DISEASE; MEDICAL HISTORY; MUTATIONAL ANALYSIS; PHENOTYPE; PREDICTIVE VALUE; PRIORITY JOURNAL; RETROGNATHIA; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

CHROMOSOME MAPPING; COHORT STUDIES; DIGEORGE SYNDROME; EXOME; FEMALE; HUMANS; MALE; MUTATION; PHENOTYPE; QB-SNARE PROTEINS; QC-SNARE PROTEINS; SEQUENCE ANALYSIS, DNA;

EID: 84873056524     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2012-101320     Document Type: Article

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