WordNet

of or relating to or characteristic of or appropriate for children or young people; "juvenile diabetes"; "juvenile fashions"
a young person, not fully developed (同)juvenile person

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Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome).

Thompson MD, Roscioli T, Marcelis C, Nezarati MM, Stolte-Dijkstra I, Sharom FJ, Lu P, Phillips JA, Sweeney E, Robinson PN, Krawitz P, Yntema HG, Andrade DM, Brunner HG, Cole DE.SourceDepartment of Laboratory Medicine & Pathobiology, University of Toronto, Toronto, Ontario, Canada. miles.thompson@utoronto.ca
American journal of medical genetics. Part A.Am J Med Genet A.2012 Mar;158A(3):553-8. doi: 10.1002/ajmg.a.35202. Epub 2012 Feb 7.
Hyperphosphatasia with neurologic deficit (Mabry syndrome) was first described in a single family (OMIM#239300) by Mabry et al. [1970]. Although considered rare at the time, more than 20 individuals with the triad of developmental disability, seizures, and hyperphosphatasia have been identified worl
PMID 22315194

X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development.

Webb TR, Matarin M, Gardner JC, Kelberman D, Hassan H, Ang W, Michaelides M, Ruddle JB, Pennell CE, Yazar S, Khor CC, Aung T, Yogarajah M, Robson AG, Holder GE, Cheetham ME, Traboulsi EI, Moore AT, Sowden JC, Sisodiya SM, Mackey DA, Tuft SJ, Hardcastle AJ.SourceInstitute of Ophthalmology, University College London, UK.
American journal of human genetics.Am J Hum Genet.2012 Feb 10;90(2):247-59. Epub 2012 Jan 26.
X-linked megalocornea (MGC1) is an ocular anterior segment disorder characterized by an increased cornea diameter and deep anterior chamber evident at birth and later onset of mosaic corneal degeneration (shagreen), arcus juvenilis, and presenile cataracts. We identified copy-number variation, frame
PMID 22284829

KIELAN Wojciech,LAZARKIEWICZ Bogdan,GRZEBIENIAK Zygmunt,SKALSKI Adam,ZUKROWSKI Piotr
Keio journal of medicine 54(1), 1-7, 2005-03-01
… and in 1904 he described ostitis fibrosa cystica juvenilis. …
NAID 10015422364

土田英治,黒住耐二
ちりぼたん 27(3・4), 75-81, 1997-06-30
… A drifted molluscan assemblage dominated by Mactra sp., Dosinia juvenilis, Glycymeris shutoi, and other unusual specics, was found on a sandy beach at San, Tokunoshima Island, Amami Islands (27°51′N, 128°59′E). …
NAID 110004759967