CANPMR syndrome and chromosome 1p32-p31 deletion syndrome coexist in two related individuals affected by simultaneous haplo-insufficiency of CAMTA1 and NIFA genes.

Coci, Emanuele G; Koehler, Udo; Liehr, Thomas; Stelzner, Armin; Fink, Christian; Langen, Hendrik; Riedel, Joachim

Coci, Emanuele G; Koehler, Udo; Liehr, Thomas; Stelzner, Armin; Fink, Christian; Langen, Hendrik; Riedel, Joachim.

Afiliación

Coci EG; Center of Social Pediatrics and Pediatric Neurology, General Hospital of Celle, 29221 Celle, Germany.
Koehler U; Medizinisch Genetisches Zentrum, 80335 Munich, Germany.
Liehr T; Institute of Human Genetics, Friedrich Schiller University, Jena University Hospital, 07743 Jena, Germany.
Stelzner A; Center of Social Pediatrics and Pediatric Neurology, General Hospital of Celle, 29221 Celle, Germany.
Fink C; Department of Radiology, General Hospital of Celle, 29223 Celle, Germany.
Langen H; Center of Social Pediatrics and Pediatric Neurology, General Hospital of Celle, 29221 Celle, Germany.
Riedel J; Center of Social Pediatrics and Pediatric Neurology, General Hospital of Celle, 29221 Celle, Germany.

Mol Cytogenet ; 9: 10, 2016.

Article en En | MEDLINE | ID: mdl-26848311

Palabras clave

CAMTA1; CANPMR syndrome; Chromosome 1p32-p31 deletion syndrome; NFIA; Paracentric inversion on short arm of chromosome 1

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Mol Cytogenet Año: 2016 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Reino Unido

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google