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Keratinopathic ichthyosis (epidermolytic ichtyosis, superficial epidermolytic ichthyosis, congenital reticular ichthyosiform erythroderma) (3 genes)
keratinopathic ichthyosis (3 genes) - KUL
Autosomal dominant epidermolytic ichthyosis
,
Superficial epidermolytic ichthyosis
,
Congenital reticular ichthyosiform erythroderma
Centrum Menselijke Erfelijkheid - KUL
Familial Thoracic Aortic Aneurysm (gene panel)
Familial Thoracic Aortic Aneurysm (21 genes) - UGent
Familial thoracic aortic aneurysm and aortic dissection
,
Loeys-Dietz syndrome
Centrum Medische Genetica - UZ Gent
Hereditary angioneurotic edema (2 genes)
F12
,
SERPING1
C1 inhibitor deficiency
,
Hereditary angioedema type 1
,
Hereditary angioedema type 2
Centre de Génétique Médicale UCL
Hereditary Angioedema (7 genes)
PLG
,
F12
,
SERPING1
,
ANGPT1
,
KNG1
Angioedema (7 genes) - IPG
F12-related hereditary angioedema with normal C1Inh
,
Hereditary angioedema type 1
,
Hereditary angioedema type 2
,
PLG-related hereditary angioedema with normal C1Inh
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Dicer1 tumor predisposition syndrome
DICER1
Familial multinodular goiter
,
DICER1 tumor-predisposition syndrome
,
Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome
,
Malignant Sertoli-Leydig cell tumor of the ovary
,
Maligant granulosa cell tumor of the ovary
,
Gynandroblastoma
Centrum Medische Genetica - UZ Gent
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