Hypophosphatasia: Molecular testing of 19 prenatal cases and discussion about genetic counseling

Prenatal Diagnosis

Volumn 28, Issue 11, 2008, Pages 993-998

  Simon Bouy, Brigitte ^a   Taillandier, Agnès ^a   Fauvert, Delphine ^a   Brun Heath, Isabelle ^b   Serre, Jean Louis ^b   Armengod, Carmen G ^c   Bialer, Martin G ^d   Mathieu, Michèle ^e   Cousin, Jacques ^f   Chitayat, David ^g   Liebelt, Jan ^h   Feldman, Barbara ⁱ   Gérard Blanluet, Marion ^j   Körtge Jung, Stefani ^k   King, Cath ^l   Laivuori, Hannele ^m   Le Merrer, Martine ⁿ   Mehta, Sarju ^o   Jern, Christina ^p   Sharif, Saba ^o   Prieur, Fabienne ^q   Gillessen Kaesbach, Gabriele ^r   Zankl, Andreas ^s   Mornet, Etienne ^a,b   more..

^a CENTRE HOSPITALIER DE VERSAILLES   (France)

^b LABORATOIRE DES SCIENCES DU CLIMAT ET DE L ENVIRONNEMENT   (France)

^c HOSPITAL UNIVERSITARIO RÍO HORTEGA   (Spain)

^d Northwell Health   (United States)

^e AMIENS UNIVERSITY HOSPITAL   (France)

^f HÔPITAL SAINT ANTOINE   (France)

^g UNIVERSITY OF TORONTO   (Canada)

^h WOMEN S AND CHILDREN S HOSPITAL   (Australia)

ⁱ Madona Perinatal Service   (United States)

^j HÔPITAL ROBERT DEBRÉ   (France)

^k Prenatal Diagnosis and Genetics   (Germany)

^l ROYAL UNITED HOSPITAL   (United Kingdom)

^m HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

ⁿ HÔPITAL NECKER ENFANTS MALADES   (France)

^o ST MARY S HOSPITAL   (United Kingdom)

^p SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

^q UNIVERSITY HOSPITAL OF SAINT ETIENNE   (France)

^r Institut fuer Humangenetik   (Germany)

^s ROYAL CHILDREN'S HOSPITAL   (Australia)

more..

Author keywords

Alkaline phosphatase; ALPL mutations; Genetic counseling; Hypophosphatasia; Perinatal form; Ultrasounds

Indexed keywords

ALKALINE PHOSPHATASE; AMINO ACID;

ALLELE; CLINICAL ARTICLE; CONFERENCE PAPER; DISEASE TRANSMISSION; DNA SEQUENCE; ECHOGRAPHY; FETUS; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC COUNSELING; HETEROZYGOSITY; HUMAN; HYPOPHOSPHATASIA; PRENATAL SCREENING; PRIORITY JOURNAL; TISSUE NONSPECIFIC ALKALINE PHOSPHATASE GENE; UNITED STATES;

ALKALINE PHOSPHATASE; BONE AND BONES; FEMALE; GENES, RECESSIVE; GENETIC COUNSELING; HUMANS; HYPOPHOSPHATASIA; MUTATION; PREGNANCY; ULTRASONOGRAPHY, PRENATAL;

EID: 57349107355     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.2088     Document Type: Conference Paper

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