Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy?

American Journal of Medical Genetics, Part A

Volumn 155, Issue 11, 2011, Pages 2860-2864

  Unger, Sheila ^a,b   Lausch, Ekkehart ^b   Stanzial, Franco ^c   Gillessen Kaesbach, Gabriele ^d   Stefanova, Irina ^d   di Stefano, Cristina Maria ^e   Bertini, Enrico ^f   Dionisi Vici, Carlo ^f   Nilius, Bernd ^g   Zabel, Bernhard ^b   Superti Furga, Andrea ^a  

^a UNIVERSITY OF LAUSANNE   (Switzerland)

^b UNIVERSITY OF FREIBURG   (Germany)

^c Ospedale di Bolzano   (Italy)

^d UNIVERSITY OF LÜBECK   (Germany)

^e Ospedale Umberto I Nocera Inferiore   (Italy)

^f BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^g LABORATORY OF MOLECULAR AND CELLULAR SIGNALING   (Belgium)

Author keywords

Charcot Marie Tooth 2C; Contractures; Fetal akinesia; Metatropic dysplasia; TRPV4

Indexed keywords

GENOMIC DNA;

AKINESIA; ARTHROGRYPOSIS; ARTICLE; AUTOPSY; BONE DYSPLASIA; BONE RADIOGRAPHY; CASE REPORT; CAUSE OF DEATH; CLINICAL FEATURE; DNA POLYMORPHISM; ELECTROMYOGRAM; FETUS; FETUS DISEASE; FETUS ECHOGRAPHY; FETUS MOVEMENT; GENE; GENE SEQUENCE; GENETIC ASSOCIATION; HETEROZYGOTE DETECTION; HUMAN; JOINT CONTRACTURE; LUNG COMPLICATION; MALE; METATROPIC DYSPLASIA; MUTATIONAL ANALYSIS; NEWBORN; PERIPHERAL NEUROPATHY; PHENOTYPE; PREDICTION; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROGNOSIS; SECOND TRIMESTER PREGNANCY; TRPV4 GENE;

FEMALE; FETAL GROWTH RETARDATION; FETUS; HETEROZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; LIMB DEFORMITIES, CONGENITAL; MALE; MUSCULAR ATROPHY, SPINAL; MUTATION; OSTEOCHONDRODYSPLASIAS; PHENOTYPE; PREGNANCY; PREGNANCY TRIMESTER, SECOND; TRPV CATION CHANNELS; ULTRASONOGRAPHY, PRENATAL;

EID: 80054898540     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34268     Document Type: Article

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