Supplementary data for BDV-syndrome: an emerging syndrome with profound obesity and neurodevelopmental delay resembling Prader-Willi syndrome
| Main Authors: | Bosch, Elisabeth, Hebebrand, Moritz, Popp, Bernt, Penger, Theresa, Behring, Bettina, Cox, Helen, Towner, Shelley, Kraus, Cornelia, Wilson, William G., Khan, Shagufta, Krumbiegel, Mandy, Ekici, Arif B., Uebe, Steffen, Trollmann, Regina, Woelfle, Joachim, Reis, André, Vasileiou, Georgia |
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| Format: | info Lainnya Journal |
| Terbitan: |
, 2021
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| Subjects: | |
| Online Access: |
https://zenodo.org/record/5235935 |
Daftar Isi:
- Bosch_Supplemental_Legends.docx: Legends for supplementary data files relating to https://doi.org/10.1210/clinem/dgab592. Bosch_supp_table_1.xlsx: Detailed description of clinical, molecular findings in eight thus far reported individuals with BDV syndrome. Bosch_supp_table_2.docx: Laboratory values of individuals described in https://doi.org/10.1210/clinem/dgab592. Bosch_supp_table_3.xlsx: Summary of CPE variants and underlying data for Fig 2 in https://doi.org/10.1210/clinem/dgab592.