Whole exome sequencing reveals a MLL de novo mutation associated with mild developmental delay and without ‘hairy elbows’: expanding the phenotype of Wiedemann-Steiner syndrome

Steel, D; Salpietro, V; Phadke, R; Pitt, M; Gentile, G; Massoud, A; Batten, L; Bashamboo, A; Mcelreavey, K; Saggar, A; Kinali, M

doi:https://www.dx.doi.org/10.1007/s12041-015-0578-x

File(s)

0755-0758.pdf (96.35 KB)

Published version

Author(s)

Steel, D

Salpietro, V

Phadke, R

Pitt, M

Gentile, G

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Type

Journal Article

Date Issued

2015-11-18

Date Acceptance

2015-11-01

Citation

Journal of Genetics, 2015, 94 (4), pp.755-758

URI

http://hdl.handle.net/10044/1/40743

DOI

https://www.dx.doi.org/10.1007/s12041-015-0578-x

ISSN

0973-7731

Publisher

Indian Academy of Sciences

Start Page

755

End Page

758

Journal / Book Title

Journal of Genetics

Volume

94

Issue

4

Copyright Statement

Subjects

Evolutionary Biology

0604 Genetics

Publication Status

Published