Disease Required Questionnaire Research/Diagnosis  Gene (s) Referent person
e-mail adress
Adolescent Nephronophthisis Yes: Nephronophthisis Diagnosis NPHP3 Corinne Antignac corinne.antignac@inserm.fr
Nephronophthisis 1 Yes: Nephronophthisis NPHP1 Karin Dahan karin.dahan@ipg.be
Diagnosis NPHP1 Corinne Antignac corinne.antignac@inserm.fr
Nephronophthisis 2 Yes: Nephronophthisis NPHP2 Karin Dahan karin.dahan@ipg.be
Diagnosis NPHP2 Corinne Antignac corinne.antignac@inserm.fr
Nephronophthisis 4 Yes: Nephronophthisis Diagnosis NPHP4 Corinne Antignac corinne.antignac@inserm.fr
Nephronophthisis 8 Yes: Nephronophthisis Diagnosis NPHP8 Corinne Antignac corinne.antignac@inserm.fr
SLSN1: Senior-Loken Syndrome 1 Yes: Nephronophthisis NPHP5 Karin Dahan karin.dahan@ipg.be
Diagnosis NPHP5 Corinne Antignac corinne.antignac@inserm.fr
SLSN3: Senior-Loken Syndrome 3 Yes: Nephronophthisis Diagnosis NPHP3 Corinne Antignac corinne.antignac@inserm.fr
SLSN6: Senior-Loken Syndrome 6 Yes: Nephronophthisis Diagnosis NPHP6 Corinne Antignac corinne.antignac@inserm.fr
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