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 = "Wiley-Liss 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 -