Lethal multiple pterygium syndrome: A severe phenotype associated with a novel mutation in the nebulin gene

Neuromuscular Disorders

Volumn 27, Issue 6, 2017, Pages 537-541

  Abdalla, Ebtesam ^a   Ravenscroft, Gianina ^b   Zayed, Louay ^c   Beecroft, Sarah J ^b   Laing, Nigel G ^b  

^a ALEXANDRIA UNIVERSITY   (Egypt)

^b UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^c ALEXANDRIA UNIVERSITY   (Egypt)

Author keywords

Fetal akinesia; Lethal multiple pterygium syndrome; Nebulin gene

Indexed keywords

NEBULIN; MUSCLE PROTEIN;

AKINESIA; ARTHROGRYPOSIS; ARTICLE; AUTOPSY; CASE REPORT; COFS SYNDROME; CONSANGUINITY; CONTRACTURE; CYSTIC LYMPHANGIOMA; DISEASE ASSOCIATION; DISEASE SEVERITY; EGYPTIAN; FETUS; FETUS ECHOGRAPHY; FETUS HYDROPS; GENE MUTATION; GENETIC VARIABILITY; HOMOZYGOSITY; HUMAN; INTRAUTERINE GROWTH RETARDATION; LUNG HYPOPLASIA; MALE; MUSCLE DISEASE; MYASTHENIA GRAVIS; NEBULIN GENE; NEUROPATHY; NEXT GENERATION SEQUENCING; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PTERYGIUM; SKIN DISEASE; THERAPEUTIC ABORTION; CONGENITAL SKIN DISEASE; FEMALE; FETUS DEATH; GENETICS; GESTATIONAL AGE; HOMOZYGOTE; MALIGNANT HYPERTHERMIA; MULTIPLE MALFORMATION SYNDROME; MUTATION; PATHOLOGY; PREGNANCY; PREGNANCY COMPLICATION;

ABNORMALITIES, MULTIPLE; ABORTED FETUS; FEMALE; GESTATIONAL AGE; HOMOZYGOTE; HUMANS; MALIGNANT HYPERTHERMIA; MUSCLE PROTEINS; MUTATION; PHENOTYPE; PREGNANCY; PREGNANCY COMPLICATIONS; SKIN ABNORMALITIES;

EID: 85015784201     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2017.01.013     Document Type: Article

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