Anophthalmia, hearing loss, abnormal pituitary development and response to growth hormone therapy in three children with microdeletions of 14q22q23

Molecular Cytogenetics

Volumn 7, Issue 1, 2014, Pages

  Brisset, Sophie ^a,f   Slamova, Zuzana ^b   Dusatkova, Petra ^b   Briand Suleau, Audrey ^c,g   Milcent, Karen ^a,f   Metay, Corinne ^c,g   Simandlova, Martina ^b   Sumnik, Zdenek ^b   Tosca, Lucie ^a,e,f   Goossens, Michel ^c,g   Labrune, Philippe ^a,f   Zemankova, Elsa ^d   Lebl, Jan ^b   Tachdjian, Gerard ^a,e,f   Sedlacek, Zdenek ^b  

^a HÔPITAL ANTOINE BÉCLÈRE   (France)

^b UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

^c HENRI MONDOR HOSPITAL   (France)

^d Genetic and Pediatric Ambulance   (Czech Republic)

^e Centre National de la Recherche Scientifique   (France)

^f UNIVERSITÉ PARIS SACLAY   (France)

^g UNIVERSITÉ PARIS EST CRÉTEIL   (France)

Author keywords

14q22q23 microdeletion; Anophthalmia; Growth hormone therapy; Hearing loss; OTX2; Pituitary

Indexed keywords

BONE MORPHOGENETIC PROTEIN 4; CLONIDINE; GROWTH HORMONE; HYDROCORTISONE; SOMATOMEDIN;

ADENOHYPOPHYSIS; ANOPHTHALMIA; ARTICLE; AUDITORY THRESHOLD; AUDITORY TUBE; BODY HEIGHT; CASE REPORT; CATCH UP GROWTH; CESAREAN SECTION; CHILD; CHRONIC DISEASE; CONDUCTION DEAFNESS; EVOKED AUDITORY RESPONSE; FEMALE; GENE CLUSTER; GENE DELETION; GENOTYPE; GROWTH DISORDER; GROWTH HORMONE DEFICIENCY; GROWTH RETARDATION; HEART VENTRICLE SEPTUM DEFECT; HIGH ARCHED PALATE; HORMONAL THERAPY; HUMAN; HYDROCORTISONE BLOOD LEVEL; HYPOGLYCEMIA; HYPOPHYSIS DISEASE; HYPOPLASIA; INTRAUTERINE GROWTH RETARDATION; LARGE EAR; MALE; MICROCEPHALY; MIDDLE EAR EFFUSION; MUSCLE HYPOTONIA; NEUROHYPOPHYSIS; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; OPTIC CHIASM; OPTIC NERVE; OPTIC TRACT; OTORRHEA; PHENOTYPE; PITUITARY STALK; POLYDACTYLY; POSTNATAL GROWTH; PRESCHOOL CHILD; PRIORITY JOURNAL; STIMULATION; SYSTOLIC HEART MURMUR; TREATMENT RESPONSE;

EID: 84898540824     PISSN: None     EISSN: 17558166     Source Type: Journal    
DOI: 10.1186/1755-8166-7-17     Document Type: Article

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