46, XY gonadal dysgenesis: new SRY point mutation in two siblings with paternal germ line mosaicism

S Stoppa‐Vaucher, T Ayabe, J Paquette… - Clinical …, 2012 - Wiley Online Library
Stoppa‐Vaucher S, Ayabe T, Paquette J, Patey N, Francoeur D, Vuissoz J‐M, Deladoëy J,
Samuels ME, Ogata T, Deal CL. 46, XY gonadal dysgenesis: new SRY point mutation in two …

46, XY gonadal dysgenesis: new SRY point mutation in two siblings with paternal germ line mosaicism.

S Stoppa-Vaucher, T Ayabe, J Paquette… - Clinical …, 2012 - search.ebscohost.com
Abstract Stoppa-Vaucher S, Ayabe T, Paquette J, Patey N, Francoeur D, Vuissoz JM,
Deladoëy J, Samuels ME, Ogata T, Deal CL. 46, XY gonadal dysgenesis: new SRY point …

46, XY gonadal dysgenesis: new SRY point mutation in two siblings with paternal germ line mosaicism

S Stoppa‐Vaucher, T Ayabe, J Paquette, N Patey… - Clinical …, 2012 - cir.nii.ac.jp
抄録< jats: p> Stoppa‐Vaucher S, Ayabe T, Paquette J, Patey N, Francoeur D, Vuissoz J‐M,
Deladoëy J, Samuels ME, Ogata T, Deal CL. 46, XY gonadal dysgenesis: new SRY point …

[引用][C] 46, XY gonadal dysgenesis: new SRY point mutation in two siblings with paternal germ line mosaicism

S STOPPA-VAUCHER, T AYABE… - Clinical …, 2012 - pascal-francis.inist.fr
46, XY gonadal dysgenesis: new SRY point mutation in two siblings with paternal germ line
mosaicism CNRS Inist Pascal-Francis CNRS Pascal and Francis Bibliographic Databases …

46, XY gonadal dysgenesis: new SRY point mutation in two siblings with paternal germ line mosaicism

S Stoppa-Vaucher, T Ayabe, J Paquette… - Clinical …, 2012 - pubmed.ncbi.nlm.nih.gov
Familial recurrence risks are poorly understood in cases of de novo mutations. In the event
of parental germ line mosaicism, recurrence risks can be higher than generally appreciated …

46, XY gonadal dysgenesis: new SRY point mutation in two siblings with paternal germ line mosaicism.

S Stoppa-Vaucher, T Ayabe, J Paquette, N Patey… - Clinical …, 2012 - europepmc.org
Familial recurrence risks are poorly understood in cases of de novo mutations. In the event
of parental germ line mosaicism, recurrence risks can be higher than generally appreciated …

46, XY gonadal dysgenesis: new SRY point mutation in two siblings with paternal germ line mosaicism

S Stoppa‐Vaucher, T Ayabe, J Paquette, N Patey… - Clinical Genetics, 2012 - infona.pl
Stoppa‐Vaucher S, Ayabe T, Paquette J, Patey N, Francoeur D, Vuissoz J‐M, Deladoëy J,
Samuels ME, Ogata T, Deal CL. 46, XY gonadal dysgenesis: new SRY point mutation in two …

[引用][C] 46, XY gonadal dysgenesis: new SRY point mutation in two siblings with paternal germ line mosaicism

S STOPPA-VAUCHER, T AYABE, J PAQUETTE… - Clinical …, 2012 - Wiley-Blackwell