BAP1-related tumor predisposition syndrome
Institutions de rang supérieur 0
Conseil génétique 2
Humangenetisches Institut am Universitätsklinikum Erlangen
Universitätsklinikum Erlangen
Schwabachanlage 10
91054 Erlangen
09131 8522318
09131 8523232
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- Li-Fraumeni syndrome
- Xeroderma pigmentosum
- Diamond-Blackfan anemia
- Beckwith-Wiedemann syndrome
- Inherited cancer-predisposing syndrome
- Constitutional mismatch repair deficiency syndrome
- Hereditary retinoblastoma
- Von Hippel-Lindau disease
- Noonan syndrome
- Ataxia-telangiectasia
- Full NF2-related schwannomatosis
- Silver-Russell syndrome
- Hereditary nonpolyposis colon cancer
- Familial ovarian cancer
- Common variable immunodeficiency
Institut für Humangenetik am Universitätsklinikum Hamburg-Eppendorf
Universitätsklinikum Hamburg-Eppendorf (UKE)
Martinistraße 52
20251 Hamburg
040 741053125
040 741055138
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- Costello syndrome
- Full NF2-related schwannomatosis
- APC-related attenuated familial adenomatous polyposis
- Familial ovarian cancer
- Noonan syndrome
- Von Hippel-Lindau disease
- Inherited renal cancer-predisposing syndrome
- Beckwith-Wiedemann syndrome
- Maffucci syndrome
- Diamond-Blackfan anemia
- Li-Fraumeni syndrome
- Cockayne syndrome
- Silver-Russell syndrome
- Ataxia-telangiectasia
- Xeroderma pigmentosum
Institutions de prise en charge 1
Klinik und Poliklinik für Pädiatrische Hämatologie und Onkologie am Universitätsklinikum Hamburg-Eppendorf
Martin Zeitz Centrum für Seltene Erkrankungen (MZCSE) Universitätsklinikum Hamburg-Eppendorf (UKE)
Martinistraße 52
20251 Hamburg
040 741054270
040 741054601
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- Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
- Combined T and B cell immunodeficiency
- Von Willebrand disease
- Fanconi anemia
- Retinoblastoma
- Congenital factor V deficiency
- Alpha-thalassemia
- Hemophilia
- Rhabdomyosarcoma
- Medulloblastoma
- Drépanocytose
- Bêta-thalassémie
- Alveolar soft tissue sarcoma