Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies

Publisher： John Wiley & Sons Inc

E-ISSN： 1552-4833|176|2|438-442

ISSN： 1552-4825

Source： American Journal Of Medical Genetics Part A, Vol.176, Iss.2, 2018-02, pp. : 438-442

Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.

Previous Menu Next

Abstract

Related content

Novel compound heterozygous mutations in DYNC2H1 in a patient with severe short‐rib polydactyly syndrome type III phenotype

By  

CONGENITAL ANOMALIES, Vol. 55, Iss. 3, 2015-08 ,pp. : 155-157

John Wiley & Sons Inc

Access to resources Recommend Favorite

Biallelic mutations in NALCN: Expanding the genotypic and phenotypic spectra of IHPRF1

By  

American Journal Of Medical Genetics Part A, Vol. 176, Iss. 2, 2018-02 ,pp. : 431-437

John Wiley & Sons Inc

Access to resources Recommend Favorite

Mutant WDR36 directly affects axon growth of retinal ganglion cells leading to progressive retinal degeneration in mice

By Chi Zai-Long   Yasumoto Fumie   Sergeev Yuri   Minami Masayoshi   Obazawa Minoru   Kimura Itaru   Takada Yuichiro   Iwata Takeshi  

Human Molecular Genetics, Vol. 19, Iss. 19, 2010-10 ,pp. : 3806-3815

Oxford University Press

Access to resources Recommend Favorite

CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro

By van der Zee Julie   Urwin Hazel   Engelborghs Sebastiaan   Bruyland Marc   Vandenberghe Rik   Dermaut Bart   De Pooter Tim   Peeters Karin   Santens Patrick   De Deyn Peter P.   Fisher Elizabeth M.   Collinge John   Isaacs Adrian M.   Van Broeckhoven Christine  

Human Molecular Genetics, Vol. 17, Iss. 2, 2008-01 ,pp. : 313-322

Oxford University Press

Access to resources Recommend Favorite

Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle

By Thompson Debra A.   Janecke Andreas R.   Lange Jessica   Feathers Kecia L.   Hübner Christian A.   McHenry Christina L.   Stockton David W.   Rammesmayer Gabriele   Lupski James R.   Antinolo Guillermo   Ayuso Carmen   Baiget Montserrat   Gouras Peter   Heckenlively John R.   den Hollander Anneke   Jacobson Samuel G.   Lewis Richard A.   Sieving Paul A.   Wissinger Bernd   Yzer Suzanne   Zrenner Eberhart   Utermann Gerd   Gal Andreas  

Human Molecular Genetics, Vol. 14, Iss. 24, 2005-12 ,pp. : 3865-3875

Oxford University Press

Access to resources Recommend Favorite