Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss

U. Kornak; F. Brancati; M. le Merrer; K.D. Lichtenbelt; W. Höhne; S. Tinschert; F.G. Garaci; B. Dallapiccola; P. Nürnberg

Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss

Translated title of the contribution: Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss

U. Kornak
, F. Brancati
, M. le Merrer
, K.D. Lichtenbelt
, W. Höhne
, S. Tinschert
, F.G. Garaci
, B. Dallapiccola
, P. Nürnberg

Research output: Contribution to journal › Article › Academic

Translated title of the contribution	Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss
Original language	Undefined/Unknown
Pages (from-to)	870-874
Number of pages	5
Journal	American Journal of Medical Genetics. Part A
Volume	152A
Issue number	4
Publication status	Published - 2010

Cite this

@article{3759660c9c1a4e5dbf611109e7676bb5,

title = "Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss",

author = "U. Kornak and F. Brancati and \{le Merrer\}, M. and K.D. Lichtenbelt and W. H{\"o}hne and S. Tinschert and F.G. Garaci and B. Dallapiccola and P. N{\"u}rnberg",

year = "2010",

language = "Undefined/Unknown",

volume = "152A",

pages = "870--874",

journal = "American Journal of Medical Genetics. Part A",

issn = "1552-4825",

publisher = "John Wiley \& Sons Inc.",

number = "4",

}

TY - JOUR

T1 - Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss

AU - Kornak, U.

AU - Brancati, F.

AU - le Merrer, M.

AU - Lichtenbelt, K.D.

AU - Höhne, W.

AU - Tinschert, S.

AU - Garaci, F.G.

AU - Dallapiccola, B.

AU - Nürnberg, P.

PY - 2010

Y1 - 2010

M3 - Article

SN - 1552-4825

VL - 152A

SP - 870

EP - 874

JO - American Journal of Medical Genetics. Part A

JF - American Journal of Medical Genetics. Part A

IS - 4

ER -