Associated Papers
Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.
Qin Z et al.
Frontiers in Genetics, 2020
32625235 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_Table_2.XLSX › patient_1
Stüve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects.
Romeo Bertola D et al.
Molecular Syndromology, 2016
Intragenic Deletion in the LIFR Gene in a Long-Term Survivor with Stüve-Wiedemann Syndrome.
Hatagami Marques J et al.
Molecular Syndromology, 2015
Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome.
Dagoneau N et al.
American Journal of Human Genetics, 2004
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