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Lancet Neurology, The, ISSN 1474-4422, 2014, Volume 13, Issue 1, pp. 44 - 58
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 06/2013, Volume 92, Issue 6, pp. 935 - 945
Journal Article
Nature Genetics, ISSN 1061-4036, 12/2014, Volume 46, Issue 12, pp. 1283 - 1292
Journal Article
04/2011
Background: The Ehlers-Danlos syndrome type VI (EDSVI) is an autosomal recessive connective tissue disease which is characterized by severe hypotonia at birth,... 
Ehlers-Danlos | Microcornea | Muscular hypotonia | Muscular weakness | Kyphoscoliosis
Web Resource
The American Journal of Human Genetics, ISSN 0002-9297, 09/2014, Volume 95, Issue 3, pp. 285 - 293
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 04/2017, Volume 62, Issue 4, pp. 465 - 471
Kaufman oculo-cerebro-facial syndrome (KOS) is caused by recessive UBE3B mutations and presents with microcephaly, ocular abnormalities, distinctive facial... 
BLEPHAROPHIMOSIS | LIGASE UBE3B | MUTATIONS | GENE | OCULOCEREBROFACIAL SYNDROME | GENETICS & HEREDITY | Eczema - diagnosis | Limb Deformities, Congenital - genetics | Eczema - genetics | Microcephaly - genetics | Face - abnormalities | Humans | Child, Preschool | Limb Deformities, Congenital - physiopathology | Male | Hand Deformities, Congenital - diagnosis | Intellectual Disability - genetics | Micrognathism - diagnosis | Facies | Adult | Female | Microcephaly - physiopathology | Child | Neck - physiopathology | Abnormalities, Multiple - genetics | Eczema - physiopathology | Micrognathism - physiopathology | Diagnosis, Differential | Eye Abnormalities - diagnosis | Micrognathism - genetics | Growth Disorders - diagnosis | Microcephaly - diagnosis | Neck - abnormalities | Eye Abnormalities - genetics | Sequence Analysis, DNA | Abnormalities, Multiple - physiopathology | Face - physiopathology | Intellectual Disability - physiopathology | Carrier Proteins - genetics | Limb Deformities, Congenital - diagnosis | Hand Deformities, Congenital - genetics | Hand Deformities, Congenital - physiopathology | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Eye Abnormalities - physiopathology | Mutation | Growth Disorders - genetics | Ubiquitin-Protein Ligases - genetics | Pathology, Molecular | Karyotype | Growth Disorders - physiopathology
Journal Article
PLoS Genetics, ISSN 1553-7390, 10/2017, Volume 13, Issue 10, pp. e1007047 - e1007047
Journal Article
02/2010
Background: Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal recessive disorder characterized by macrocephaly, and slowly... 
Megalencephaly | MLC1 gene | Leukoencephalopathy | Macrocephaly
Web Resource
CEN case reports, ISSN 2192-4449, 05/2017, Volume 6, Issue 1, pp. 98 - 104
Nephronophthisis, an autosomal recessive kidney disease, represents the most frequent genetic cause of end-stage kidney disease in the first three decades of... 
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2011, Volume 88, Issue 2, pp. 162 - 172
Journal Article