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Journal Article
Pohl, Esther, Aykut, Ayca, Beleggia, Filippo 
ORCID: 0000-0003-0234-7094, Karaca, Emin, Durmaz, Burak, Keupp, Katharina, Arslan, Esra, Onay, Melis Palamar, Yigit, Goekhan, Ozkinay, Ferda and Wollnik, Bernd
(2013).
A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome.
Hum. Genet., 132 (11).
S. 1311 - 1321.
NEW YORK:
SPRINGER.
ISSN 1432-1203
Pohl, Esther, Aykut, Ayca, Beleggia, Filippo, Karaca, Emin, Durmaz, Burak, Keupp, Katharina, Arslan, Esra, Palamar, Melis ORCID: 0000-0002-2494-0131, Yigit, Goekhan, Ozkinay, Ferda and Wollnik, Bernd
(2013).
A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome (vol 132, pg 1311, 2013).
Hum. Genet., 132 (11).
S. 1321 - 1322.
NEW YORK:
SPRINGER.
ISSN 1432-1203
Schreml, Julia, Durmaz, Burak, Cogulu, Ozgur, Keupp, Katharina, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Pohl, Esther, Milz, Esther, Coker, Mahmut, Ucar, Sema Kalkan ORCID: 0000-0001-9574-7841, Nuernberg, Gudrun, Nuernberg, Peter, Kuhn, Joachim and Ozkinay, Ferda
(2014).
The missing link: an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation.
Hum. Genet., 133 (1).
S. 29 - 40.
NEW YORK:
SPRINGER.
ISSN 1432-1203