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Charcot-Marie-Tooth type 1A / Hereditary Neuropathy with Liability to Pressure Palsies
PMP22
Charcot-Marie-Tooth disease type 1A
,
Hereditary neuropathy with liability to pressure palsies
Centrum Medische Genetica - UZ Gent
Charcot-Marie-Tooth type 1A (CMT1A) / Hereditary Neuropathy with Liability to Pressure Palsies
PMP22
Charcot-Marie-Tooth disease type 1A
,
Hereditary neuropathy with liability to pressure palsies
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Charcot-Marie-Tooth type 1A / Hereditary Neuropathy with Liability to Pressure Palsies
PMP22
Charcot-Marie-Tooth disease type 1A
,
Hereditary neuropathy with liability to pressure palsies
,
Charcot-Marie-Tooth disease type 1E
Centrum Medische Genetica - UZ Antwerpen
Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)
PMP22
Charcot-Marie-Tooth disease type 1A
,
Hereditary neuropathy with liability to pressure palsies
Centre de Génétique Humaine - Erasme ULB
Charcot-Marie-Tooth type 1A (CMT1A) / Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)
PMP22
Charcot-Marie-Tooth disease type 1A
,
Dejerine-Sottas syndrome
,
Hereditary neuropathy with liability to pressure palsies
Centrum Menselijke Erfelijkheid - KUL
Charcot-Marie-Tooth type 1A / Hereditary Neuropathy with Liability to Pressure Palsies
PMP22
Charcot-Marie-Tooth disease type 1A
,
Hereditary neuropathy with liability to pressure palsies
Centre de Génétique Humaine - CHU Sart-Tilman
Charcot-Marie-Tooth (CMT1A, GJB1)
GJB1
,
PMP22
X-linked Charcot-Marie-Tooth disease type 1
,
Charcot-Marie-Tooth disease type 1A
Centre de Génétique Humaine - Erasme ULB
Cardiofaciocutaneous syndrome (5 genes)
HRAS
,
KRAS
,
BRAF
,
MAP2K2
,
MAP2K1
Cardiofaciocutaneous syndrome
Centre de Génétique Humaine - CHU Sart-Tilman
Temple syndrome / Kagami-Ogata Syndrome
DLK1
,
MEG3
,
RTL1
Temple syndrome due to maternal uniparental disomy of chromosome 14
,
Temple syndrome due to paternal 14q32.2 hypomethylation
,
Temple syndrome due to paternal 14q32.2 microdeletion
,
Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
,
Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
,
Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
Centre de Génétique Médicale UCL
Hypogonadism. Male Infertility (LHB gene)
LHB
Leydig cell hypoplasia due to LHB deficiency
Centre de Génétique Humaine - CHU Sart-Tilman
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