Carrier state for the nebulin exon 55 deletion and abnormal prenatal ultrasound findings as potential signs of nemaline myopathy

Prenatal Diagnosis

Volumn 32, Issue 1, 2012, Pages 70-74

  Yonath, Hagith ^a,b   Reznik Wolf, Haike ^a   Berkenstadt, Michal ^a   Eisenberg Barzilai, Shlomit ^a   Lehtokari, Vilma Lotta ^c   Wallgren Pettersson, Carina ^c   Mehta, Lakshmi ^d   Achiron, Reuven ^b,e   Gilboa, Yinon ^b,e   Polak Charcon, Sylvie ^b,e   Winder, Thomas ^f   Frydman, Moshe ^a,b   Pras, Elon ^a,b  

^a GERTNER INSTITUTE FOR EPIDEMIOLOGY AND HEALTH POLICY RESEARCH   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

^c UNIVERSITY OF HELSINKI   (Finland)

^d MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^e SHEBA MEDICAL CENTER   (Israel)

^f NONE

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; NEBULIN;

ARTHROGRYPOSIS; ARTICLE; CASE REPORT; CLUBFOOT; DNA DETERMINATION; EXON; FEMALE; FETUS ECHOGRAPHY; FETUS MOVEMENT; GENE DELETION; GENE MUTATION; HETEROZYGOTE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; HYDRAMNIOS; INFANT; JEW; MUSCLE BIOPSY; NEMALINE MYOPATHY; NEWBORN; NUCLEOTIDE SEQUENCE; PREGNANCY; PRIORITY JOURNAL; RETROSPECTIVE STUDY;

ADULT; CODON, NONSENSE; EXONS; FEMALE; GENE DELETION; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HETEROZYGOTE DETECTION; HUMANS; INFANT, NEWBORN; JEWS; MALE; MUSCLE PROTEINS; MYOPATHIES, NEMALINE; PEDIGREE; PREGNANCY; ULTRASONOGRAPHY, PRENATAL;

EID: 84857461982     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.2905     Document Type: Article

References (11)

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