A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features

Molin, Anna-Maja; Andrieux, J.; Koolen, D. A. N.; Delobel, B.; Duban-Bedu, B.; Fischetto, R.; Flinter, F.; Kjaergaard, S.; Kok, F.; Krepischii, A.C.; Le Caignec, C.; Mackie Ogilvie, C.; Maia, S.; Mathieu-Dramard, M.; Munnich, A.; Palumbo, O.; Papadia, F.; Pfundt, R.; Reardon, A.; Receveur, A.; Rio, M.; Ronsbro, Darling, L.; Rosenberg, C-; Sa, J.; Vallee, L.; Vincent-Delorme, C.; Zelante, L.; Bondeson, M-L; Anneren, G.

doi:10.1136/jmedgenet-2011-100534

Forskningsartikel2012Vetenskapligt granskadÖppen tillgång

A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features

Molin, Anna-Maja; Andrieux, J.; Koolen, D. A. N.; Delobel, B.; Duban-Bedu, B.; Fischetto, R.; Flinter, F.; Kjaergaard, S.; Kok, F.; Krepischii, A.C.; Le Caignec, C.; Mackie Ogilvie, C.; Maia, S.; Mathieu-Dramard, M.; Munnich, A.; Palumbo, O.; Papadia, F.; Pfundt, R.; Reardon, A.; Receveur, A.;
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Sammanfattning

Conclusion A newly recognised 3q13.31 microdeletion syndrome is delineated which is of diagnostic and prognostic value. Furthermore, two genes are suggested to be responsible for the main phenotype.

Publicerad i

Journal of Medical Genetics
2012, volym: 49, nummer: 2, sidor: 104-109
Utgivare: BMJ PUBLISHING GROUP

SLU författare

Molin, Anna-Maja
- Uppsala universitet

UKÄ forskningsämne

Medicinsk genetik och genomik

Publikationens identifierare

DOI: https://doi.org/10.1136/jmedgenet-2011-100534

Permanent länk till denna sida (URI)

https://res.slu.se/id/publ/45899