NEK1 and DYNC2H1 are both involved in short rib polydactyly majewski type but not in Beemer Langer cases

Journal of Medical Genetics

Volumn 49, Issue 4, 2012, Pages 227-233

  El Hokayem, Joyce ^a   Huber, Céline ^a   Couvé, Adeline ^a   Aziza, Jacqueline ^b   Baujat, Geneviève ^a   Bouvier, Raymonde ^c   Cavalcanti, Denise P ^d   Collins, Felicity A ^e   Cordier, Marie Pierre ^f   Delezoide, Anne Lise ^g   Gonzales, Marie ^h   Johnson, Diana ⁱ   Le Merrer, Martine ^j   Levy Mozziconacci, Annie ^a   Loget, Philippe ^k   Martin Coignard, Dominique ^l   Martinovic, Jelena ^m   Mortier, Geert R ⁿ   Perez, Marie José ^o   Roume, Joëlle ^p   Scarano, Gioacchino ^q   Munnich, Arnold ^a   Cormier Daire, Valérie ^a   more..

^a INSERM   (France)

^b CHU PURPAN   (France)

^c LOUIS PRADEL HOSPITAL   (France)

^d UNIVERSITY OF CAMPINAS   (Brazil)

^e Western Sydney Genetics Program   (Australia)

^f Groupement Hospitalier Est   (France)

^g UNIVERSITÉ PARIS DESCARTES   (France)

^h ARMAND TROUSSEAU HOSPITAL   (France)

ⁱ SHEFFIELD CHILDREN'S NHS FOUNDATION TRUST   (United Kingdom)

^j HÔPITAL NORD   (France)

^k RENNES UNIVERSITY HOSPITAL   (France)

^l CENTRE HOSPITALIER   (France)

^m LABORATOIRE CERBA   (France)

ⁿ ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^o HÔPITAL ARNAUD DE VILLENEUVE   (France)

^p Serv de Gyncologie obsttrique   (France)

^q UNIVERSITY OF SANNIO   (Italy)

more..

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ARTICLE; CASE REPORT; CHONDRODYSPLASIA; DYNC2H1 GENE; GENE; GENE MUTATION; GENETIC SCREENING; HOLOPROSENCEPHALY; HUMAN; MICROGYRIA; NEK1 GENE; PRIORITY JOURNAL;

CELL CYCLE PROTEINS; CONSANGUINITY; CYTOPLASMIC DYNEINS; FEMALE; FETUS; GENETIC ASSOCIATION STUDIES; GENETIC HETEROGENEITY; GENOTYPE; HUMANS; MALE; MUTATION; PREGNANCY; PROTEIN-SERINE-THREONINE KINASES; SHORT RIB-POLYDACTYLY SYNDROME;

EID: 84864074875     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2011-100717     Document Type: Article

References (11)

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