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References

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2. Benito-Sanz S, Barroso E, Heine-Suñer D, Hisado-Oliva A, Romanelli V, RosellJ, Aragones A, Caimari M, Argente J, Ross JL, Zinn AR, Gracia R, Lapunzina P,Campos-Barros A, Heath KE. Clinical and molecular evaluation of SHOX/PAR1duplications in Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature(ISS). J Clin Endocrinol Metab. 2011 Feb;96(2):E404-12. doi:10.1210/jc.2010-1689.
3. Benito-Sanz S, Gorbenko del Blanco D, Huber C, Thomas NS, Aza-Carmona M,Bunyan D, Maloney V, Argente J, Cormier-Daire V, Campos-Barros A, Heath KE.Characterization of SHOX deletions in Leri-Weill dyschondrosteosis (LWD) reveals genetic heterogeneity and no recombination hotspots. Am J Hum Genet. 2006Aug;79(2):409-14; author reply 414.
4. Benito-Sanz S, Thomas NS, Huber C, Gorbenko del Blanco D, Aza-Carmona M,Crolla JA, Maloney V, Rappold G, Argente J, Campos-Barros A, Cormier-Daire V,Heath KE. A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis. Am J Hum Genet. 2005Oct;77(4):533-44.Dec;77(6):1131. Huber, Celine [corrected to Huber, Céline]; Del Blanco, DaryaGorbenko [corrected to Gorbenko del Blanco, Darya]; Rappold, Gudrun [added];Argente, Jesus [corrected to Argente, Jesús]; Cormier-Daire, Valerie [correctedto Cormier-Daire, Valrie].
5. Binder G, Renz A, Martinez A, Keselman A, Hesse V, Riedl SW, Häusler G,Fricke-Otto S, Frisch H, Heinrich JJ, Ranke MB. SHOX haploinsufficiency andLeri-Weill dyschondrosteosis: prevalence and growth failure in relation tomutation, sex, and degree of wrist deformity. J Clin Endocrinol Metab. 2004Sep;89(9):4403-8.
6. Hirschfeldova K, Solc R, Baxova A, Zapletalova J, Kebrdlova V, Gaillyova R,Prasilova S, Soukalova J, Mihalova R, Lnenicka P, Florianova M, Stekrova J. SHOX gene defects and selected dysmorphic signs in patients of idiopathic shortstature and Léri-Weill dyschondrosteosis. Gene. 2012 Jan 10;491(2):123-7. doi:10.1016/j.gene.2011.10.011.
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9. Shears DJ, Vassal HJ, Goodman FR, Palmer RW, Reardon W, Superti-Furga A,Scambler PJ, Winter RM. Mutation and deletion of the pseudoautosomal gene SHOXcause Leri-Weill dyschondrosteosis. Nat Genet. 1998 May;19(1):70-3.