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AMERICAN JOURNAL OF MEDICAL GENETICS PART A, ISSN 1552-4825, 05/2019, Volume 179, Issue 5, pp. 822 - 826
Okamoto syndrome is characterized by severe intellectual disability, generalized hypotonia, stenosis of the ureteropelvic junction with hydronephrosis, cardiac... 
KABUKI-LIKE SYNDROME | Okamoto syndrome | HNRNPK | Au-Kline syndrome | GENETICS & HEREDITY | Genetic research | Medicine, Experimental | Medical research | Genetic aspects | Ribonucleoprotein K | Splicing | Stenosis
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 09/2013, Volume 161, Issue 9, pp. 2234 - 2243
Journal Article
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 09/2014, Volume 166, Issue 3, pp. 262 - 275
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2013, Volume 93, Issue 1, pp. 173 - 180
Journal Article
Congenital Anomalies, ISSN 0914-3505, 01/2018, Volume 58, Issue 1, pp. 36 - 38
Interstitial deletions in the 10q21.3q22.2 chromosomal region are rare. A de novo microdeletion in this region was identified in a patient with severe... 
short extremities | microarray | webbed neck | comparative genomic hybridization | congenital heart defect | INTELLECTUAL DISABILITY | AUTISM | GENES | PEDIATRICS | ALPHA-T-CATENIN | DELETION | Cytogenetics | Congenital heart disease | Genetic disorders | Heart | Autism | Clonal deletion | Congenital defects | Cardiomyopathy | Genes | Congenital anomalies | Deletion | Delay | Defects
Journal Article
Nature Genetics, ISSN 1061-4036, 04/2012, Volume 44, Issue 4, pp. 376 - 378
Journal Article
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 04/2018, Volume 63, Issue 4, pp. 487 - 491
Biallelic mutations of the gene encoding diphthamide biosynthesis 1 (DPH1, NM_001383.3) cause developmental delay, dysmorphic features, sparse hair, and short... 
GENE | OVCA1 | GENETICS & HEREDITY
Journal Article
American Journal of Cardiology, The, ISSN 0002-9149, 2015, Volume 117, Issue 11, pp. 1724 - 1728
Journal Article