Potocki-shaffer deletion encompassing ALX4 in a patient with frontonasal dysplasia phenotype

American Journal of Medical Genetics, Part A

Volumn 164, Issue 2, 2014, Pages 346-352

  Ferrarini, Alessandra ^a   Gaillard, Muriel ^b   Guerry, Frederic ^b   Ramelli, Gianpaolo ^a   Heidi, Fodstad ^b   Keddache, Caroline Verley ^b   Wieland, Ilse ^c   Beckmann, Jacques S ^b,d   Jaquemont, Sébastien ^b   Martinet, Danielle ^b  

^a SAN GIOVANNI HOSPITAL   (Switzerland)

^b LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^c OTTO VON GUERICKE UNIVERSITY   (Germany)

^d UNIVERSITY OF LAUSANNE   (Switzerland)

Author keywords

11p11p12; ALX4; Fronto nasal dysplasia; Potocki Shaffer syndrome

Indexed keywords

ADULT; ALOPECIA; ALX4 GENE; AORTA STENOSIS; ARTICLE; BONE DYSPLASIA; BRAIN VENTRICLE PERITONEUM SHUNT; CASE REPORT; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; COMPUTER ASSISTED TOMOGRAPHY; CORPUS CALLOSUM AGENESIS; CRANIOFACIAL MALFORMATION; DISEASE SEVERITY; ECHOGRAPHY; ECTODERMAL DYSPLASIA; FEMALE; FRONTONASAL DYSPLASIA; GENE; GENE DELETION; HIP DISLOCATION; HUMAN; HYDROCEPHALUS; HYPERTELORISM; HYPERTROPHIC CARDIOMYOPATHY; HYPOGONADISM; INTELLECTUAL IMPAIRMENT; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PHENOTYPE; POTOCKI SHAFFER SYNDROME; PRIORITY JOURNAL; SYNDROME; YOUNG ADULT;

11P11P12; ALX4; FRONTO-NASAL DYSPLASIA; POTOCKI-SHAFFER SYNDROME;

CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 11; COMPARATIVE GENOMIC HYBRIDIZATION; CRANIOFACIAL ABNORMALITIES; DNA-BINDING PROTEINS; EXONS; EXOSTOSES, MULTIPLE HEREDITARY; FACE; FACIAL BONES; FACIES; FEMALE; HETEROZYGOTE; HUMANS; IMAGING, THREE-DIMENSIONAL; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE DELETION; TRANSCRIPTION FACTORS; YOUNG ADULT;

EID: 84892840548     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36140     Document Type: Article

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