000151672 001__ 151672
000151672 005__ 20250319155217.0
000151672 0247_ $$2doi$$a10.3390/genes12050738
000151672 0248_ $$2sideral$$a126608
000151672 037__ $$aART-2021-126608
000151672 041__ $$aeng
000151672 100__ $$aTenorio-Castaño J.
000151672 245__ $$aSchuurs–hoeijmakers syndrome (Pacs1 neurodevelopmental disorder): Seven novel patients and a review
000151672 260__ $$c2021
000151672 5060_ $$aAccess copy available to the general public$$fUnrestricted
000151672 5203_ $$aSchuurs–Hoeijmakers syndrome (SHMS) or PACS1 Neurodevelopmental disorder is a rare disorder characterized by intellectual disability, abnormal craniofacial features and congenital malformations. SHMS is an autosomal dominant hereditary disease caused by pathogenic variants in the PACS1 gene. PACS1 is a trans-Golgi-membrane traffic regulator that directs protein cargo and several viral envelope proteins. It is upregulated during human embryonic brain development and has low expression after birth. So far, only 54 patients with SHMS have been reported. In this work, we report on seven new identified SHMS individuals with the classical c.607C > T: p.Arg206Trp PACS1 pathogenic variant and review clinical and molecular aspects of all the patients reported in the literature, providing a summary of clinical findings grouped as very frequent (=75% of patients), frequent (50–74%), infrequent (26–49%) and rare (less than =25%).
000151672 536__ $$9info:eu-repo/grantAgreement/ES/DGA-FEDER/B32-17R$$9info:eu-repo/grantAgreement/ES/DGA-FEDER/B32-20R
000151672 540__ $$9info:eu-repo/semantics/openAccess$$aby$$uhttp://creativecommons.org/licenses/by/3.0/es/
000151672 590__ $$a4.141$$b2021
000151672 591__ $$aGENETICS & HEREDITY$$b72 / 175 = 0.411$$c2021$$dQ2$$eT2
000151672 592__ $$a1.032$$b2021
000151672 593__ $$aGenetics (clinical)$$c2021$$dQ2
000151672 593__ $$aGenetics$$c2021$$dQ2
000151672 594__ $$a5.0$$b2021
000151672 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion
000151672 700__ $$aMorte B.
000151672 700__ $$aNevado J.
000151672 700__ $$aMartinez-Glez V.
000151672 700__ $$aSantos-Simarro F.
000151672 700__ $$aGarcía-Miñaúr S.
000151672 700__ $$aPalomares-Bralo M.
000151672 700__ $$aPacio-Míguez M.
000151672 700__ $$aGómez B.
000151672 700__ $$aArias P.
000151672 700__ $$aAlcochea A.
000151672 700__ $$aCarrión J.
000151672 700__ $$aArias P.
000151672 700__ $$aAlmoguera B.
000151672 700__ $$aLópez-Grondona F.
000151672 700__ $$aLorda-Sanchez I.
000151672 700__ $$aGalán-Gómez E.
000151672 700__ $$aValenzuela I.
000151672 700__ $$aPerez M.P.M.
000151672 700__ $$aCuscó I.
000151672 700__ $$aBarros F.
000151672 700__ $$aPié J.
000151672 700__ $$aRamos S.
000151672 700__ $$0(orcid)0000-0002-5732-2209$$aRamos F.J.$$uUniversidad de Zaragoza
000151672 700__ $$aKuechler A.
000151672 700__ $$aTizzano E.
000151672 700__ $$aAyuso C.
000151672 700__ $$aKaiser F.J.
000151672 700__ $$aPérez-Jurado L.A.
000151672 700__ $$aCarracedo Á.
000151672 700__ $$aLapunzina P.
000151672 700__ $$aThe ENoD-CIBERER Consortium
000151672 700__ $$aThe SIDE Consortium
000151672 7102_ $$11011$$2670$$aUniversidad de Zaragoza$$bDpto. Microb.Ped.Radio.Sal.Pú.$$cÁrea Pediatría
000151672 773__ $$g12, 5 (2021), 738 [9 pp.]$$pGenes (Basel)$$tGenes$$x2073-4425
000151672 8564_ $$s596956$$uhttps://zaguan.unizar.es/record/151672/files/texto_completo.pdf$$yVersión publicada
000151672 8564_ $$s3101808$$uhttps://zaguan.unizar.es/record/151672/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada
000151672 909CO $$ooai:zaguan.unizar.es:151672$$particulos$$pdriver
000151672 951__ $$a2025-03-19-14:20:30
000151672 980__ $$aARTICLE