Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome

European Journal of Medical Genetics

Volumn 55, Issue 2, 2012, Pages 81-90

  Quélin, Chloé ^a   Loget, Philippe ^b   Verloes, Alain ^c   Bazin, Anne ^d   Bessières, Bettina ^e   Laquerrière, Annie ^f   Patrier, Sophie ^f   Grigorescu, Romulus ^g   Encha Razavi, Ferechté ^e   Delahaye, Sophie ^g   Jouannic, Jean Marie ^g   Carbonne, Bruno ^h   D'Hervé, Dominique ⁱ   Aubry, Marie Cécile ^j   Macé, Guillaume ^h   Harvey, Thierry ^k   Ville, Yves ^e   Viot, Geraldine ^j   Joyé, Nicole ^g   Odent, Sylvie ^a,l   Attié Bitach, Tania ^e   Wolf, Claude ^m   Chevy, Françoise ^m   Benlian, Pascale ⁿ   Gonzales, Marie ^g   more..

^a RENNES UNIVERSITY HOSPITAL   (France)

^b PONTCHAILLOU UNIVERSITY HOSPITAL   (France)

^c HÔPITAL ROBERT DEBRÉ   (France)

^d LABORATOIRE CERBA   (France)

^e HÔPITAL NECKER ENFANTS MALADES   (France)

^f HÔPITAL CHARLES NICOLLE   (France)

^g ARMAND TROUSSEAU HOSPITAL   (France)

^h HÔPITAL SAINT ANTOINE   (France)

ⁱ Clinique Mutualiste La Sagesse   (France)

^j APHP Cochin Port Royal ^*  (France)

^k GROUPE HOSPITALIER DIACONESSES CROIX SAINT SIMON   (France)

^l UNIVERSITÉ DE RENNES 1   (France)

^m Centre National de la Recherche Scientifique   (France)

ⁿ LILLE UNIVERSITY HOSPITAL   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CONGENITAL MALFORMATION; CONGENITAL PULMONARY ADENOMATOID MALFORMATION; CONGENITAL TUMOR; DIFFERENTIAL DIAGNOSIS; FACE DYSMORPHIA; FETUS; GASTROSCHISIS; GONAD DEVELOPMENT; GONADAL DYSGENESIS; HOLOMYELIA; HUMAN; HUMAN TISSUE; HYPOPLASIA; HYPOTHALAMIC HAMARTOMA; KARYOTYPE 46,XX; LUNG MALFORMATION; MOLECULAR DIAGNOSIS; PALLISTER HALL SYNDROME; PHENOTYPIC VARIATION; SEX CHROMOSOME; SMITH LEMLIE OPITZ SYNDROME; ULNA HYPOPLASIA; VERTEBRA MALFORMATION;

DIAGNOSIS, DIFFERENTIAL; FEMALE; FETUS; HUMANS; MALE; OBSERVATION; PHENOTYPE; SMITH-LEMLI-OPITZ SYNDROME;

EID: 84857443120     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2011.12.002     Document Type: Article

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