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Archives of Disease in Childhood, ISSN 0003-9888, 06/2019, Volume 104, Issue Suppl 3, p. A381
IntroductionDejerine-Sottas syndrome (DSS) is a rare hereditary motor-sensor neuropathy transmitted as either autosomal dominant or recessive and classified as... 
Journal Article
Human Mutation, ISSN 1059-7794, 09/2018, Volume 39, Issue 9, pp. 1246 - 1261
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 2016, Volume 170, Issue 12, pp. 3069 - 3082
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 09/2015, Volume 23, Issue 9, pp. 1165 - 1170
KAT6B sequence variants have been identified previously in both patients with the Say-Barber-Biesecker type of blepharophimosis mental retardation syndromes... 
BLEPHAROPHIMOSIS | DE-NOVO MUTATIONS | MENTAL-RETARDATION | CAUSE GENITOPATELLAR SYNDROME | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | OHDO SYNDROME | HISTONE ACETYLTRANSFERASE KAT6B | Scrotum - abnormalities | Kidney - pathology | Exons | Humans | Joint Instability - genetics | Child, Preschool | Histone Acetyltransferases - genetics | Joint Instability - pathology | Blepharophimosis - pathology | Male | Intellectual Disability - genetics | Exome | Blepharophimosis - genetics | Heart Defects, Congenital - genetics | Psychomotor Disorders - genetics | Congenital Hypothyroidism - diagnosis | DNA Mutational Analysis | Blepharophimosis - diagnosis | Congenital Hypothyroidism - genetics | Facies | Patella - abnormalities | Craniofacial Abnormalities - pathology | Female | Scrotum - pathology | Craniofacial Abnormalities - genetics | Severity of Illness Index | Diagnosis, Differential | Gene Expression | Joint Instability - diagnosis | Genetic Association Studies | Urogenital Abnormalities - diagnosis | Heart Defects, Congenital - pathology | Intellectual Disability - pathology | Psychomotor Disorders - pathology | Genotype | Patella - pathology | Phenotype | Urogenital Abnormalities - pathology | Craniofacial Abnormalities - diagnosis | Kidney - abnormalities | Intellectual Disability - diagnosis | Psychomotor Disorders - diagnosis | Congenital Hypothyroidism - pathology | Heart Defects, Congenital - diagnosis | Mutation | Urogenital Abnormalities - genetics | Pediatrics | Phenotypes | Congenital diseases | Statistical analysis | Splicing | Intellectual disabilities | Thyroid gland | Blepharophimosis | Gene deletion | Defects | Haploinsufficiency | Medicine | Genotype & phenotype | Hospitals | Molecular modelling | Clonal deletion | Genetics | Genotypes | Thyroid | Life Sciences | Human genetics
Journal Article
European journal of human genetics, ISSN 1018-4813, 2012, Volume 20, Issue 2, pp. 166 - 170
Journal Article
European journal of human genetics, ISSN 1018-4813, 2012, Volume 20, Issue 6, pp. 598 - 606
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American Journal of Medical Genetics Part A, ISSN 1552-4825, 2014, Volume 164A, Issue 11, pp. 2707 - 2723
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2013, Volume 8, Issue 1, pp. 110 - 110
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The American Journal of Human Genetics, ISSN 0002-9297, 05/2011, Volume 88, Issue 5, pp. 574 - 585
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American journal of medical genetics. Part A, ISSN 1552-4825, 2012, Volume 158A, Issue 11, pp. 2733 - 2742
Journal Article