Midline defects in deletion 18p syndrome: Clinical and molecular characterization of three patients

Clinical Dysmorphology

Volumn 16, Issue 4, 2007, Pages 247-252

  Portnoï, Marie France ^a   Gruchy, Nicolas ^a   Marlin, Sandrine ^b   Finkel, Lina ^a   Denoyelle, Françoise ^b   Dubourg, Christèle ^c   Odent, Sylvie ^c   Siffroi, Jean Pierre ^a   Le Bouc, Yves ^b   Houang, Muriel ^b  

^a HÔPITAL SAINT ANTOINE   (France)

^b ARMAND TROUSSEAU HOSPITAL   (France)

^c RENNES UNIVERSITY HOSPITAL   (France)

Author keywords

Chromosome 18; Deletion 18p; Familial occurrence; Growth hormone deficiency; Holoprosencephaly; TGIF gene

Indexed keywords

GROWTH HORMONE; TRANSCRIPTION FACTOR SIX3;

ARTICLE; CASE REPORT; CHROMOSOME 18P; CHROMOSOME DELETION; COMPUTER ASSISTED TOMOGRAPHY; CRANIOFACIAL MALFORMATION; CYTOGENETICS; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE DELETION; GENE MAPPING; GENOTYPE PHENOTYPE CORRELATION; GROWTH HORMONE DEFICIENCY; GROWTH RETARDATION; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HOLOPROSENCEPHALY; HUMAN; INFANT; MALE; MENTAL DEFICIENCY; MONOSOMY; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; TRANSFORMING GROWTH FACTOR BETA INDUCED FACTOR GENE;

ABNORMALITIES, MULTIPLE; ADULT; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 18; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; KARYOTYPING; MALE; SYNDROME;

EID: 34548446469     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/MCD.0b013e328235a572     Document Type: Article

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