Associated Papers
Exome sequencing and prenatal skeletal abnormalities: comprehensive review and meta-analysis and way forward.
Jiang M et al.
Frontiers in Genetics, 2025
Prenatal diagnosis of fetal skeletal dysplasia using targeted next-generation sequencing: an analysis of 30 cases.
Liu Y et al.
Diagnostic Pathology, 2019
X-linked dominant chondrodysplasia punctata with severe phenotype in a female fetus: A case report.
Liu Y et al.
Medicine, 2019
Concurrent Chondrodysplasia Punctata Type 2 (Conradi-Hunermann-Happle Syndrome) and Ichthyosis Vulgaris in Teenaged Twin Girls.
Jeong HS et al.
Pediatric Dermatology, 2017
Severe X-linked chondrodysplasia punctata in nine new female fetuses.
Lefebvre M et al.
Prenatal Diagnosis, 2015
The role of the abnormalities in the distal pathway of cholesterol biosynthesis in the Conradi-Hünermann-Happle syndrome.
Cañueto J et al.
Biochimica Et Biophysica Acta, 2014
TM6SF2 and MAC30, new enzyme homologs in sterol metabolism and common metabolic disease.
Sanchez-Pulido L et al.
Frontiers in Genetics, 2014
Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature.
Cañueto J et al.
The British Journal of Dermatology, 2012
Novel mutations in X-linked dominant chondrodysplasia punctata (CDPX2).
Whittock NV et al.
The Journal of Investigative Dermatology, 2003
Skewed X-chromosome inactivation causes intra-familial phenotypic variation of an EBP mutation in a family with X-linked dominant chondrodysplasia punctata.
Shirahama S et al.
Human Genetics, 2003
Gas chromatography-mass spectrometry and molecular genetic studies in families with the Conradi-Hünermann-Happle syndrome.
Has C et al.
The Journal of Investigative Dermatology, 2002
Identification of a novel mutation in 3beta-hydroxysteroid-Delta8-Delta7-isomerase in a case of Conradi-Hünermann-Happle syndrome.
Becker K et al.
Experimental Dermatology, 2001
Novel and recurrent EBP mutations in X-linked dominant chondrodysplasia punctata.
Ikegawa S et al.
American Journal of Medical Genetics, 2000
Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. [email protected].
Derry JM et al.
Nature Genetics, 1999
Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome).
Herman GE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0
Reduced penetrance in a family with X-linked dominant chondrodysplasia punctata.
Hellenbroich Y et al.
European Journal of Medical Genetics, 0
Emopamil binding protein mutation in conradi-hünermann-happle syndrome representing plaque-type psoriasis.
Ozyurt K et al.
Indian Journal of Dermatology, 0