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Acta Neuropathologica, ISSN 0001-6322, 12/2017, Volume 134, Issue 6, pp. 889 - 904
Journal Article
PLoS ONE, ISSN 1932-6203, 11/2015, Volume 10, Issue 11, p. e0142831
Journal Article
TURKISH JOURNAL OF PEDIATRICS, ISSN 0041-4301, 05/2009, Volume 51, Issue 3, pp. 294 - 297
49,XXXXY and 48,XXXY syndromes are rare gonosomal aneuploidies in which the affected individuals present with characteristic facial and skeletal malformations,... 
48,XXXY | POLYSOMY | 49,XXXXY | KLINEFELTER-SYNDROME | PARENTAL ORIGIN | PEDIATRICS | micropenis | hip dysplasia | hypogenitalism | gonosomal aneuploidy | Rare Diseases - genetics | Klinefelter Syndrome - genetics | Humans | Karyotyping | Adolescent | Rare Diseases - diagnosis | Klinefelter Syndrome - diagnosis | Aneuploidy | Infant | Male | Micropenis | Gonosomal aneuploidy | Hip dysplasia | Hypogenitalism
Journal Article
Journal Article
Genetic Counseling, ISSN 1015-8146, 2007, Volume 18, Issue 4, pp. 423 - 435
The authors describe seven Egyptian patients (5 males and two females) with microcephaly, mild microphthalmia, microcornea, congenital cataracts and... 
Microcephaly | Hypogenitalism | Micro syndrome | Hypogenesis of corpus callosum | Congenital cataract | Microphthalmia | microcephaly | microphthalmia | MENTAL-RETARDATION | COCKAYNE-SYNDROME | congenital cataract | hypogenitalism | OPTIC ATROPHY | SHORT STATURE | NOONAN-SYNDROME |