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Pituitary adenoma (4 genes)
MEN1
,
AIP
,
CDKN1B
,
PRKAR1A
Pituitary adenoma (4 genes) - ULG
Familial isolated pituitary adenoma
,
Silent pituitary adenoma
,
Null pituitary adenoma
,
Multiple endocrine neoplasia type 1
,
Multiple endocrine neoplasia type 4
,
Carney complex
Centre de Génétique Humaine - CHU Sart-Tilman
Carney syndrome
PRKAR1A
Carney complex
Centre de Génétique Médicale UCL
Usher syndrome, type IIA
USH2A
Usher syndrome type 2
Centrum Medische Genetica - UZ Gent
GM2-gangliosidosis / Tay-Sachs syndrome diagnostic (HEXA gene hot spot mutations - c.1274_1277dupTATC, c.1421+1G>C and c.805G>A (p.Gly269Ser))
HEXA
Tay-Sachs disease, B variant, juvenile form
,
Tay-Sachs disease, B variant, infantile form
,
Tay-Sachs disease, B1 variant
,
Tay-Sachs disease, B variant, adult form
Centrum Medische Genetica - UZ Brussel VUB
Fukuyama congenital muscular dystrophy
FKTN
Congenital muscular dystrophy, Fukuyama type
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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