Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog.

Solomon BD, Bear KA, Wyllie A, Keaton AA, Dubourg C, David V, Mercier S, Odent S, Hehr U, Paulussen A, Clegg NJ, Delgado MR, Bale SJ, Lacbawan F, Ardinger HH, Aylsworth AS, Bhengu NL, Braddock S, Brookhyser K, Burton B, Gaspar H, Grix A, Horovitz D, Kanetzke E, Kayserili H, Lev D, Nikkel SM, Norton M, Roberts R, Saal H, Schaefer GB, Schneider A, Smith EK, Sowry E, Spence MA, Shalev SA, Steiner CE, Thompson EM, Winder TL, Balog JZ, Hadley DW, Zhou N, Pineda-Alvarez DE, Roessler E, Muenke M

Open source

DOI: 10.1136/jmedgenet-2012-101008
Published: 2012 Jul
Container: Journal of medical genetics
Publisher: Not recorded
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1136/jmedgenet-2012-101008,
  title = {Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog.},
  author = {Solomon BD and Bear KA and Wyllie A and Keaton AA and Dubourg C and David V and Mercier S and Odent S and Hehr U and Paulussen A and Clegg NJ and Delgado MR and Bale SJ and Lacbawan F and Ardinger HH and Aylsworth AS and Bhengu NL and Braddock S and Brookhyser K and Burton B and Gaspar H and Grix A and Horovitz D and Kanetzke E and Kayserili H and Lev D and Nikkel SM and Norton M and Roberts R and Saal H and Schaefer GB and Schneider A and Smith EK and Sowry E and Spence MA and Shalev SA and Steiner CE and Thompson EM and Winder TL and Balog JZ and Hadley DW and Zhou N and Pineda-Alvarez DE and Roessler E and Muenke M},
  year = {2012},
  journal = {Journal of medical genetics},
  doi = {10.1136/jmedgenet-2012-101008},
  url = {https://doi.org/10.1136/jmedgenet-2012-101008}
}

RIS

TY  - JOUR
TI  - Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog.
AU  - Solomon BD
AU  - Bear KA
AU  - Wyllie A
AU  - Keaton AA
AU  - Dubourg C
AU  - David V
AU  - Mercier S
AU  - Odent S
AU  - Hehr U
AU  - Paulussen A
AU  - Clegg NJ
AU  - Delgado MR
AU  - Bale SJ
AU  - Lacbawan F
AU  - Ardinger HH
AU  - Aylsworth AS
AU  - Bhengu NL
AU  - Braddock S
AU  - Brookhyser K
AU  - Burton B
AU  - Gaspar H
AU  - Grix A
AU  - Horovitz D
AU  - Kanetzke E
AU  - Kayserili H
AU  - Lev D
AU  - Nikkel SM
AU  - Norton M
AU  - Roberts R
AU  - Saal H
AU  - Schaefer GB
AU  - Schneider A
AU  - Smith EK
AU  - Sowry E
AU  - Spence MA
AU  - Shalev SA
AU  - Steiner CE
AU  - Thompson EM
AU  - Winder TL
AU  - Balog JZ
AU  - Hadley DW
AU  - Zhou N
AU  - Pineda-Alvarez DE
AU  - Roessler E
AU  - Muenke M
PY  - 2012
JO  - Journal of medical genetics
DO  - 10.1136/jmedgenet-2012-101008
UR  - https://doi.org/10.1136/jmedgenet-2012-101008
ER  -

APA

BD, S., KA, B., A, W., AA, K., C, D., V, D., S, M., S, O., U, H., A, P., NJ, C., MR, D., SJ, B., F, L., HH, A., AS, A., NL, B., S, B., K, B., B, B., H, G., A, G., D, H., E, K., H, K., D, L., SM, N., M, N., R, R., H, S., GB, S., A, S., EK, S., E, S., MA, S., SA, S., CE, S., EM, T., TL, W., JZ, B., DW, H., N, Z., DE, P., E, R., & M, M. (2012). Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog.. Journal of medical genetics. https://doi.org/10.1136/jmedgenet-2012-101008

Source records

pubmed · retrieved 2026-09-26T17:58:07.448Z