Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome

Clinical Genetics

Volumn 72, Issue 6, 2007, Pages 506-516

  Wieland, I ^a   Weidner, C ^a   Ciccone, R ^b   Lapi, E ^c   McDonald McGinn, D ^d   Kress, W ^e   Jakubiczka, S ^a   Collmann, H ^e   Zuffardi, O ^b,f   Zackai, E ^d   Wieacker, Peter ^a,g  

^a OTTO VON GUERICKE UNIVERSITY   (Germany)

^b UNIVERSITY OF PAVIA   (Italy)

^c UNIVERSITY OF FLORENCE   (Italy)

^d CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^e UNIVERSITY OF WÜRZBURG   (Germany)

^f FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^g UNIVERSITY OF MÜNSTER   (Germany)

Author keywords

Chromosome Xq12 q13; Contiguous gene deletion; Craniofrontonasal dysplasia; Developmental delay; Ectodermal dysplasia; Ephrin B1; Oligophrenin 1; Praja 1

Indexed keywords

ECTODYSPLASIN A; GENE PRODUCT; GENOMIC DNA; OLIGOPHRENIN 1; PRAJA 1; PROTEIN EFNB1; PROTEIN OPHN1; PROTEIN PJA1; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; BRACHYCEPHALY; CASE REPORT; CHILD; CLINICAL FEATURE; CRANIOFACIAL MALFORMATION; CRANIOFACIAL SYNOSTOSIS; CRANIOFRONTONASAL SYNDROME; DISEASE SEVERITY; FEMALE; GENE DELETION; HAPLOTYPE; HUMAN; HYPERTELORISM; LEARNING DISORDER; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SOUTHERN BLOTTING;

EID: 36249017394     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2007.00905.x     Document Type: Article

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