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American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2018, Volume 176, Issue 12, pp. 2829 - 2834
Nonimmune hydrops fetalis (NIHF) is a rare disorder with a high perinatal mortality of at least 50%. One cause of NIHF is generalized lymphatic dysplasia... 
hydrops fetalis | generalized lymphatic dysplasia | exome sequencing | prenatal diagnosis | PIEZO1 variants | HENNEKAM-SYNDROME | GENE | ANOMALIES | GENETICS & HEREDITY | MUTATIONS | Edema | Dysplasia | Ultrasonic imaging | Lymphedema | Hydrops fetalis | Autopsy | Fetuses | Children | Ultrasound
Journal Article
Genetics in Medicine, ISSN 1098-3600, 07/2011, Volume 13, Issue 7, pp. 680 - 685
Journal Article
European Neuropsychopharmacology, ISSN 0924-977X, 10/2019, Volume 29, pp. S123 - S123
Journal Article
JAMA Neurology, ISSN 2168-6149, 10/2014, Volume 71, Issue 10, pp. 1237 - 1246
IMPORTANCE: Cerebellar ataxias are a diverse collection of neurologic disorders with causes ranging from common acquired etiologies to rare genetic conditions.... 
MUTATIONS | UTILITY | CLINICAL NEUROLOGY | FEATURES | TOOL | Genetic Predisposition to Disease | Humans | Middle Aged | Child, Preschool | Male | Sequence Analysis, DNA | Young Adult | Exome - genetics | Phenotype | Cerebellar Ataxia - genetics | Adolescent | Aged, 80 and over | Adult | Female | Aged | Child | Cohort Studies
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 10/2015, Volume 23, Issue 11, pp. 1473 - 1481
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2011, Volume 155, Issue 11, pp. 2871 - 2878
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2007, Volume 80, Issue 4, pp. 616 - 632
Journal Article
BMC Medical Genetics, ISSN 1471-2350, 05/2014, Volume 15, Issue 1, pp. 49 - 49
Background: Wiedemann-Steiner Syndrome (WSS) is characterized by short stature, a variety of dysmorphic facial and skeletal features, characteristic... 
Wiedemann-Steiner syndrome | Intellectual disability | Clinical exome sequencing | KMT2A | Developmental delay