Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita

Prenatal Diagnosis

Volumn 37, Issue 2, 2017, Pages 144-150

  Feingold Zadok, Michal ^a,b   Chitayat, David ^c   Chong, Karen ^c   Injeyan, Marie ^c   Shannon, Patrick ^c   Chapmann, Daphne ^a   Maymon, Ron ^a,b   Pillar, Nir ^b   Reish, Orit ^a,b  

^a ASSAF HAROFEH MEDICAL CENTER   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

^c MOUNT SINAI HOSPITAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA ACTIN; ALPHA TROPOMYOSIN; COFILIN 2; DOMAIN CONTAINING 13; KELCH LIKE FAMILY MEMBER 40; KELCH LIKE FAMILY MEMBER 41; MUSCLE PROTEIN; NEBULIN; NEMALINE MYOPATHY 2; NEMALINE MYOPATHY 3; PROTEIN; TROPOMYOSIN; TROPONIN T; UNCLASSIFIED DRUG;

AKINESIA; ARTHROGRYPOSIS; ARTICLE; ASHKENAZI JEW; BINDING SITE; CLINICAL ARTICLE; CONSENSUS SEQUENCE; FEMALE; FETUS; FETUS DISEASE; FETUS ECHOGRAPHY; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; GESTATIONAL AGE; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; KELCH REPEAT; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NEMALINE MYOPATHY; NEXT GENERATION SEQUENCING; NUCLEAR FAMILY; PRIORITY JOURNAL; SEGREGATION ANALYSIS; ABORTION; CASE REPORT; FATALITY; GENETICS; MUTATION; NEWBORN; PEDIGREE; PREGNANCY;

ABORTION, EUGENIC; ARTHROGRYPOSIS; FATAL OUTCOME; FEMALE; GENETIC TESTING; HUMANS; INFANT, NEWBORN; MALE; MUSCLE PROTEINS; MUTATION; PEDIGREE; PREGNANCY;

EID: 85011097314     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.4977     Document Type: Article

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