Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes

American Journal of Medical Genetics, Part A

Volumn 170, Issue 1, 2016, Pages 24-31

  Urreizti, Roser ^a   Roca Ayats, Neus ^a   Trepat, Judith ^a   Garcia Garcia, Francisco ^b,c   Aleman, Alejandro ^c   Orteschi, Daniela ^d   Marangi, Giuseppe ^d   Neri, Giovanni ^d   Opitz, John M ^e   Dopazo, Joaquin ^b,c   Cormand, Bru ^a   Vilageliu, Lluïsa ^a   Balcells, Susana ^a   Grinberg, Daniel ^a  

^a UNIVERSITY OF BARCELONA   (Spain)

^b CENTRO DE INVESTIGACIÓN PRÍNCIPE FELIPE   (Spain)

^c CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^d FONDAZIONE POLICLINICO UNIVERSITARIO A GEMELLI IRCCS   (Italy)

^e UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

ASXL1; Bohring Opitz; CD96; Developmental disease; Molecular diagnosis; Opitz C; Rare disease; Trigonocephaly; Whole exome sequencing

Indexed keywords

CD96 ANTIGEN; DESMOCOLLIN; DESMOGLEIN; GENOMIC DNA; LYMPHOCYTE ANTIGEN; MEMBRANE PROTEIN; PROTEIN ASXL1; UNCLASSIFIED DRUG; ASXL1 PROTEIN, HUMAN; LEUKOCYTE ANTIGEN; REPRESSOR PROTEIN;

ADOLESCENT; ARTICLE; ASXL1 GENE; BIOINFORMATICS; BOHRING OPITZ SYNDROME; CD96 GENE; CHILD; CHROMOSOME 18Q; CHROMOSOME DUPLICATION; CLINICAL ARTICLE; CONTROLLED STUDY; GENETIC ASSOCIATION; GENETIC PROCEDURES; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; INFANT; MISSENSE MUTATION; MULTIPLE MALFORMATION SYNDROME; MUTATIONAL ANALYSIS; NEWBORN; OPITZ C TRIGONOCEPHALY; PHENOTYPIC VARIATION; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SANGER SEQUENCING; SIBLING; WHOLE EXOME SEQUENCING; CRANIOFACIAL SYNOSTOSIS; EXOME; FEMALE; GENETICS; HIGH THROUGHPUT SEQUENCING; INTELLECTUAL IMPAIRMENT; MALE; MUTATION; PATHOLOGY; PEDIGREE; PHENOTYPE; PROGNOSIS;

ADOLESCENT; ANTIGENS, CD; CHILD; CHILD, PRESCHOOL; CRANIOSYNOSTOSES; EXOME; FEMALE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFANT; INTELLECTUAL DISABILITY; MALE; MUTATION; PEDIGREE; PHENOTYPE; PROGNOSIS; REPRESSOR PROTEINS;

EID: 84955681543     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37418     Document Type: Article

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