Two unrelated patients with Nail-Patella syndrome and unusual additional features

Nathalie Eduarda M Vanden Eynde; Thomy de Ravel; L Poelsler; Alexander Gheldof; Sara Seneca; Peter Janssens; Veronique Bissay; K.  Keymolen; Frederik Jan Hes; Boyan Dimitrov

Two unrelated patients with Nail-Patella syndrome and unusual additional features

Nathalie Eduarda M Vanden Eynde, Thomy de Ravel, L Poelsler, Alexander Gheldof, Sara Seneca, Peter Janssens, Veronique Bissay, K. Keymolen, Frederik Jan Hes, Boyan Dimitrov

Onderzoeksoutput: Meeting abstract (Book)

Samenvatting

Nail-patella syndrome (NPS) is an autosomal dominant disorder characterized by nail, patella and elbow changes, and the presence of iliac horns. It is caused by haplo-insufficiency of the LMX1B gene.
While classic renal changes leading to nephropathy and kidney failure are well known in NPS, this report presents two unrelated patients with NPS who exhibit additional atypical features.

Originele taal-2	English
Titel	Eurodysmorpho abstract book
Pagina's	22
Aantal pagina's	1
Status	Published - sep 2023
Evenement	EuroDysmorpho 2023: 33rd Edition of the European Workshop on Dysmorphology - Lisbon, Portugal Duur: 13 sep 2023 → 16 sep 2023

Workshop

Workshop	EuroDysmorpho 2023: 33rd Edition of the European Workshop on Dysmorphology
Land/Regio	Portugal
Stad	Lisbon
Periode	13/09/23 → 16/09/23

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title = "Two unrelated patients with Nail-Patella syndrome and unusual additional features",

abstract = "Nail-patella syndrome (NPS) is an autosomal dominant disorder characterized by nail, patella and elbow changes, and the presence of iliac horns. It is caused by haplo-insufficiency of the LMX1B gene.While classic renal changes leading to nephropathy and kidney failure are well known in NPS, this report presents two unrelated patients with NPS who exhibit additional atypical features.",

author = "{Vanden Eynde}, {Nathalie Eduarda M} and {de Ravel}, Thomy and L Poelsler and Alexander Gheldof and Sara Seneca and Peter Janssens and Veronique Bissay and K. Keymolen and Hes, {Frederik Jan} and Boyan Dimitrov",

year = "2023",

month = sep,

language = "English",

pages = "22",

booktitle = "Eurodysmorpho abstract book",

note = "null ; Conference date: 13-09-2023 Through 16-09-2023",

}

TY - CHAP

T1 - Two unrelated patients with Nail-Patella syndrome and unusual additional features

AU - Vanden Eynde, Nathalie Eduarda M

AU - de Ravel, Thomy

AU - Poelsler, L

AU - Gheldof, Alexander

AU - Seneca, Sara

AU - Janssens, Peter

AU - Bissay, Veronique

AU - Keymolen, K.

AU - Hes, Frederik Jan

AU - Dimitrov, Boyan

PY - 2023/9

Y1 - 2023/9

N2 - Nail-patella syndrome (NPS) is an autosomal dominant disorder characterized by nail, patella and elbow changes, and the presence of iliac horns. It is caused by haplo-insufficiency of the LMX1B gene.While classic renal changes leading to nephropathy and kidney failure are well known in NPS, this report presents two unrelated patients with NPS who exhibit additional atypical features.

AB - Nail-patella syndrome (NPS) is an autosomal dominant disorder characterized by nail, patella and elbow changes, and the presence of iliac horns. It is caused by haplo-insufficiency of the LMX1B gene.While classic renal changes leading to nephropathy and kidney failure are well known in NPS, this report presents two unrelated patients with NPS who exhibit additional atypical features.

M3 - Meeting abstract (Book)

SP - 22

BT - Eurodysmorpho abstract book

Y2 - 13 September 2023 through 16 September 2023

ER -

Two unrelated patients with Nail-Patella syndrome and unusual additional features

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Workshop

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