About: Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature: "D-CHRAMPS syndrome"

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About: Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature: "D-CHRAMPS syndrome" Goto Sponge NotDistinct Permalink

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scientific article published on 01 March 2002

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в березні 2002 (uk) im März 2002 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu en marzu de 2002 (ast) scientific article published on 01 March 2002 (en)
publication date	wds:Q78074939-C6B08317-0436-4703-96D0-0D3728EE45D2
publication date	2002-03-01 00:00:00Z (xsd:dateTime)
exact match	wds:Q78074939-36053F3B-5BB5-42B1-8AAC-7D7442B33472
exact match	https://scigraph.springernature.com/pub.10.1007/s00431-001-0882-8
cites work	wds:Q78074939-0930F704-50C8-4139-B525-2B13DA820F2C wds:Q78074939-1A149EA1-8081-4D38-B0C9-2010B0A89173 wds:Q78074939-346D9327-8124-4CA7-8A73-6F7C24D564A7 wds:Q78074939-669A8201-6285-4D57-B60A-4A8D605C82F3 wds:Q78074939-964F6C3F-0D2C-448E-82C8-BEC65A8E60C8 wds:Q78074939-BD991D2C-0ED0-4273-970A-B0E2C4186FC2 wds:Q78074939-C9082561-5439-430F-952B-DC3FEE2C0410
cites work	Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1 Autosomal-dominant cerebellar ataxia with retinal degeneration (ADCA type II) is genetically different from ADCA type I A syndrome of progressive pancytopenia with microcephaly, cerebellar hypoplasia and growth failure Autosomal recessive cerebellar hypoplasia and endosteal sclerosis: A newly recognized syndrome A syndrome of primary combined immunodeficiency with microcephaly, cerebellar hypoplasia, growth failure and progressive pancytopenia Microcephaly with chorioretinal degeneration Autosomal recessive cerebellar hypoplasia and tapeto-retinal degeneration: a new syndrome.
author name string	wds:Q78074939-337091A5-5A25-4FA6-A3BB-C230E82157E4 wds:Q78074939-48EF7F5E-72EC-48DE-A33C-E55262A8858D wds:Q78074939-645A4473-8694-41A4-A64C-18043E7848C6 wds:Q78074939-722A8E52-6C0A-46C7-85C4-021052516D27 wds:Q78074939-7618F58F-C796-4B1C-8156-80357336A179 wds:Q78074939-BFBC8296-78E5-4DBD-B3F6-E5CB50DE7BC7 wds:Q78074939-D280F8E8-F2EE-4F28-A9B8-81BCFBB7DC85 wds:Q78074939-F4E3FF3B-32EE-4673-A5BE-1B1ECCA85395
author name string	Hatem El-Shanti Kamel M Ajlouni Ammar F Mubaidin Saleh Ajlouni Azmi Hadidi Dana Hiyasat Maha Till Munir A Dehyyat
rdfs:label	Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature: "D-CHRAMPS syndrome" (en) Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature: "D-CHRAMPS syndrome" (nl)
skos:prefLabel	Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature: "D-CHRAMPS syndrome" (en) Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature: "D-CHRAMPS syndrome" (nl)
name	Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature: "D-CHRAMPS syndrome" (en) Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature: "D-CHRAMPS syndrome" (nl)
title	wds:Q78074939-C92F0F58-25AC-4533-930B-5E99E29AA341
title	Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature: "D-CHRAMPS syndrome" (en)
page(s)	wds:Q78074939-D5E61EF6-B3EC-4ABC-9412-727B6071FF28
page(s)	170-172
instance of	wds:Q78074939-0918255D-5BD3-4232-92B7-A267319236EC
instance of	scholarly article
main subject	wds:Q78074939-14B2D089-F25B-48C4-856F-6852D91BA643 wds:Q78074939-4F703241-6C35-410C-B2DA-D767ACE98E17 wds:Q78074939-51507C4C-3406-4497-9044-DCED6FFDF972 wds:Q78074939-BAA54496-81D2-4840-B228-862DB59F4CD4
main subject	microcephaly retinitis pigmentosa cerebellar hypoplasia hypogonadism
PubMed ID	wds:Q78074939-E18064D7-A497-4078-BC06-23975A88E625
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/11998919
PubMed ID	11998919
published in	wds:Q78074939-3A4C8B9D-9345-4F40-9363-4B27C7858FDC
published in	European Journal of Pediatrics
issue	wds:Q78074939-841C733F-A0C3-4290-85A0-8B4EFE0FFB45
volume	wds:Q78074939-F101CC11-E9B2-46EA-8C1E-20E67011E92C
issue	3
volume	161
DOI	wds:Q78074939-03B96B80-DA00-4B2C-A5B9-3B5BB9155BBE
DOI	http://dx.doi.org/10.1007/S00431-001-0882-8
DOI	10.1007/S00431-001-0882-8
skos:altLabel	Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature: “D-CHRAMPS syndrome” (en)
Dimensions Publication ID	wds:Q78074939-89414BE0-1230-4611-86CC-551EC9CC4895
Dimensions Publication ID	1025364502
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q78074939
is cites work of	Primary hypergonadotropic hypogonadism, partial alopecia, and müllerian hypoplasia: Report of a second family with additional findings
is cites work of	wds:Q73398832-FAA391D5-7A1E-45EA-BC40-C67AE4EC8270

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