Germline mosaicism in keratitis-ichthyosis-deafness syndrome: Pre-natal diagnosis in a familial lethal form

Clinical Genetics

Volumn 77, Issue 6, 2010, Pages 587-592

  Sbidian, E ^a   Feldmann, D ^b   Bengoa, J ^c   Fraitag, S ^c   Abadie, V ^a,d   de Prost, Y ^a,d   Bodemer, C ^a,d   Hadj Rabia, S ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b ARMAND TROUSSEAU HOSPITAL   (France)

^c Department of Genetics ^*  (France)

^d UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

Connexin 26; Deafness syndrome; G45E; GJB2; Ichthyosis; Lethal keratistis; Missense mutation; Pre natal diagnosis

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; ERYTHRODERMA; FACE DYSMORPHIA; GENE MUTATION; GENE SEQUENCE; GENETIC COUNSELING; HEARING LOSS; HUMAN; HUMAN TISSUE; HYPERKERATOSIS; INFANT; KERATITIS; KERATITIS ICHTHYOSIS DEAFNESS SYNDROME; LABORATORY TEST; MALE; MISSENSE MUTATION; MOSAICISM; NEWBORN PERIOD; PHENOTYPE; PHYSICAL EXAMINATION; PRENATAL DIAGNOSIS; PREPUCE; PRIORITY JOURNAL; SKIN BIOPSY; ADULT; DEAFNESS; FEMALE; GENETICS; GERMLINE MUTATION; ICHTHYOSIS; PREGNANCY; SYNDROME;

ADULT; DEAFNESS; FEMALE; GERM-LINE MUTATION; HUMANS; ICHTHYOSIS; KERATITIS; MALE; MOSAICISM; PREGNANCY; PRENATAL DIAGNOSIS; SYNDROME;

EID: 77953924670     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01339.x     Document Type: Article

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