Prenatal diagnosis and genetic analysis of fetal akinesia deformation sequence and multiple pterygium syndrome associated with neuromuscular junction disorders: A review

Taiwanese Journal of Obstetrics and Gynecology

Volumn 51, Issue 1, 2012, Pages 12-17

  Chen, Chih Ping ^a,b,c,d,e  

^a MACKAY MEDICAL COLLEGE   (Taiwan)

^b MACKAY MEMORIAL HOSPITAL   (Taiwan)

^c ASIA UNIVERSITY   (Taiwan)

^d CHINA MEDICAL UNIVERSITY   (Taiwan)

^e NATIONAL YANG MING UNIVERSITY   (Taiwan)

Author keywords

CHRNA1; CHRND; CHRNG; CNTN1; DOK7; Fetal akinesia deformation sequence; Multiple pterygium syndrome; Prenatal diagnosis; RAPSN; SYNE1

Indexed keywords

CHOLINERGIC RECEPTOR; MUSCLE PROTEIN; NESPRIN 1; PROTEIN; PROTEIN CHRNA1; PROTEIN CHRND; PROTEIN CHRNG; PROTEIN CNTN1; PROTEIN DOK7; PROTEIN RAPSN; UNCLASSIFIED DRUG;

ARTHROGRYPOSIS; CLEFT PALATE; CLUBFOOT; CONGENITAL HEART MALFORMATION; CRANIOFACIAL MALFORMATION; CRYPTORCHISM; CYSTIC LYMPHANGIOMA; DIFFERENTIAL DIAGNOSIS; EDEMA; FETAL AKINESIA DEFORMATION SEQUENCE; FETUS; FETUS HYDROPS; FETUS MALFORMATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; GENITAL MALFORMATION; HUMAN; INTESTINE MALROTATION; INTRAUTERINE GROWTH RETARDATION; KYPHOSCOLIOSIS; LIMB MALFORMATION; LUNG HYPOPLASIA; MULTIPLE PTERYGIUM SYNDROME; NEUROMUSCULAR JUNCTION DISORDER; NUCHAL EDEMA; NUCHAL TRANSLUCENCY MEASUREMENT; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOGENESIS; PRENATAL DIAGNOSIS; REVIEW; SHORT STATURE; WEBBED NECK;

ABNORMALITIES, MULTIPLE; ARTHROGRYPOSIS; FEMALE; GENETIC TESTING; HUMANS; MALIGNANT HYPERTHERMIA; NEUROMUSCULAR JUNCTION DISEASES; PREGNANCY; PTERYGIUM; ULTRASONOGRAPHY, PRENATAL;

EID: 84862812219     PISSN: 10284559     EISSN: 18756263     Source Type: Journal    
DOI: 10.1016/j.tjog.2012.01.004     Document Type: Review

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