A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia

G Zanni; VM Kalscheuer; Andreas Friedrich; S Barresi; P Alfieri; M M M; SA Haas; G Piccini; T Karl; SM Klauck; E Bellacchio; F Emma; M Cappa; E Bertini; Hannelore Breitenbach-Koller

A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia

G Zanni, VM Kalscheuer, Andreas Friedrich, S Barresi, P Alfieri, M M M, SA Haas, G Piccini, T Karl, SM Klauck, E Bellacchio, F Emma, M Cappa, E Bertini, Hannelore Breitenbach-Koller

Research output: Contribution to journal › Article › peer-review

Translated title of the contribution	A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia
Original language	English
Pages (from-to)	1155-1158
Journal	HUMAN MUTATION
Publication status	Published - 2015

Bibliographical note

36(12)

Fields of Science and Technology Classification 2012

106 Biology
301 Medical-Theoretical Sciences, Pharmacy

Cite this

Zanni, G., Kalscheuer, VM., Friedrich, A., Barresi, S., Alfieri, P., M, M. M., Haas, SA., Piccini, G., Karl, T., Klauck, SM., Bellacchio, E., Emma, F., Cappa, M., Bertini, E., & Breitenbach-Koller, H. (2015). A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia. HUMAN MUTATION, 1155-1158.

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title = "A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia",

author = "G Zanni and VM Kalscheuer and Andreas Friedrich and S Barresi and P Alfieri and M, {M M} and SA Haas and G Piccini and T Karl and SM Klauck and E Bellacchio and F Emma and M Cappa and E Bertini and Hannelore Breitenbach-Koller",

note = "36(12)",

year = "2015",

language = "English",

pages = "1155--1158",

journal = "HUMAN MUTATION",

issn = "1098-1004",

publisher = "John Wiley & Sons Inc.",

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Zanni, G, Kalscheuer, VM, Friedrich, A, Barresi, S, Alfieri, P, M, MM, Haas, SA, Piccini, G, Karl, T, Klauck, SM, Bellacchio, E, Emma, F, Cappa, M, Bertini, E & Breitenbach-Koller, H 2015, 'A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia', HUMAN MUTATION, pp. 1155-1158.

TY - JOUR

T1 - A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia

AU - Zanni, G

AU - Kalscheuer, VM

AU - Friedrich, Andreas

AU - Barresi, S

AU - Alfieri, P

AU - M, M M

AU - Haas, SA

AU - Piccini, G

AU - Karl, T

AU - Klauck, SM

AU - Bellacchio, E

AU - Emma, F

AU - Cappa, M

AU - Bertini, E

AU - Breitenbach-Koller, Hannelore

N1 - 36(12)

PY - 2015

Y1 - 2015

M3 - Article

C2 - 26290468

SN - 1098-1004

SP - 1155

EP - 1158

JO - HUMAN MUTATION

JF - HUMAN MUTATION

ER -