Delineation of the clinical phenotype associated with OPHN1 mutations based on the clinical and neuropsychological evaluation of three families
| hal.structure.identifier | Service de Neurologie Pédiatrique | |
| dc.contributor.author | CHABROL, B | |
| dc.contributor.author | GIRARD, N | |
| dc.contributor.author | N'GUYEN, K | |
| dc.contributor.author | GERARD, A | |
| hal.structure.identifier | Economie des filières | |
| dc.contributor.author | CARLIER, Michèle | |
| dc.contributor.author | VILLARD, L | |
| hal.structure.identifier | Département de génétique médicale [Hôpital de la Timone - APHM] | |
| dc.contributor.author | PHILIP, N | |
| dc.date.accessioned | 2021-05-14T09:52:01Z | |
| dc.date.available | 2021-05-14T09:52:01Z | |
| dc.date.issued | 2005-11 | |
| dc.identifier.issn | 1552-4825 | |
| dc.identifier.uri | https://oskar-bordeaux.fr/handle/20.500.12278/77411 | |
| dc.description.abstractEn | Recent reports have demonstrated that mutations in the OPHN1 gene were responsible for a syndromic rather than non-specific mental retardation. Abnormalities of the posterior fossa with cerebellar hypoplasia have been demonstrated in all male patients reported to date. We report here a new family with X-linked mental retardation due to mutation in OPHN1 and present unpublished data about two families previously reported, concerning the facial and psychological phenotype of affected males and carrier females. Our study confirms that cerebellar hypoplasia is a hallmark of this syndrome. In addition, affected males display facial similarities that can help the diagnosis. Most carrier females have mild mental retardation and subtle facial changes. (c) 2005 Wiley-Liss, Inc. | |
| dc.language.iso | en | |
| dc.publisher | Wiley | |
| dc.title.en | Delineation of the clinical phenotype associated with OPHN1 mutations based on the clinical and neuropsychological evaluation of three families | |
| dc.type | Article de revue | |
| dc.identifier.doi | 10.1002/ajmg.a.30882 | |
| dc.subject.hal | Sciences cognitives/Psychologie | |
| bordeaux.journal | American Journal of Medical Genetics Part A | |
| bordeaux.page | 314-317 | |
| bordeaux.volume | 138A | |
| bordeaux.hal.laboratories | Institut de Mécanique et d’Ingénierie de Bordeaux (I2M) - UMR 5295 | * |
| bordeaux.issue | 4 | |
| bordeaux.institution | Université de Bordeaux | |
| bordeaux.institution | Bordeaux INP | |
| bordeaux.institution | CNRS | |
| bordeaux.institution | INRAE | |
| bordeaux.institution | Arts et Métiers | |
| bordeaux.peerReviewed | oui | |
| hal.identifier | hal-01441287 | |
| hal.version | 1 | |
| hal.origin.link | https://hal.archives-ouvertes.fr//hal-01441287v1 | |
| bordeaux.COinS | ctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=American%20Journal%20of%20Medical%20Genetics%20Part%20A&rft.date=2005-11&rft.volume=138A&rft.issue=4&rft.spage=314-317&rft.epage=314-317&rft.eissn=1552-4825&rft.issn=1552-4825&rft.au=CHABROL,%20B&GIRARD,%20N&N'GUYEN,%20K&GERARD,%20A&CARLIER,%20Mich%C3%A8le&rft.genre=article |
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