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Damseh N, Chong K, Marshall C, et al. Severe phenotype of X-linked dominant chondrodysplasia punctata. Clin Case Rep. 2017;5(9):1435-1437doi: 10.1002/ccr3.1008.
Damseh, N., Chong, K., Marshall, C., Kratz, L., Teitelbaum, R., Shannon, P., & Kannu, P. (2017). Severe phenotype of X-linked dominant chondrodysplasia punctata. Clinical case reports, 5(9), 1435-1437. https://doi.org/10.1002/ccr3.1008
Damseh, Nadirah, et al. "Severe phenotype of X-linked dominant chondrodysplasia punctata." Clinical case reports vol. 5,9 (2017): 1435-1437. doi: https://doi.org/10.1002/ccr3.1008
Damseh N, Chong K, Marshall C, Kratz L, Teitelbaum R, Shannon P, Kannu P. Severe phenotype of X-linked dominant chondrodysplasia punctata. Clin Case Rep. 2017 Jul 20;5(9):1435-1437. doi: 10.1002/ccr3.1008. eCollection 2017 Sep. PMID: 28878897; PMCID: PMC5582310.
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Clin Case Rep. 2017 Jul 20;5(9):1435-1437. doi: 10.1002/ccr3.1008. eCollection 2017 Sep.

Severe phenotype of X-linked dominant chondrodysplasia punctata.

Clinical case reports

Nadirah Damseh, Karen Chong, Christian Marshall, Lisa Kratz, Ronni Teitelbaum, Patrick Shannon, Peter Kannu

Affiliations

  1. Division of Clinical and Metabolic Genetics The Hospital for Sick Children University of Toronto Toronto Ontario M5G 1X8 Canada.
  2. The Prenatal Diagnosis and Medical Genetics Program Department of Obstetrics and Gynecology Mount Sinai Hospital University of Toronto Toronto Ontario M5G1E2 Canada.
  3. Kennedy Krieger Institute Baltimore Maryland 2120 USA.
  4. Department of Laboratory Medicine and Pathology Mount Sinai Hospital Toronto Ontario M5G1X5 Canada.

PMID: 28878897 PMCID: PMC5582310 DOI: 10.1002/ccr3.1008

Abstract

A prenatally ascertained case representing the more severe end of the X-linked dominant chondrodysplasia punctata (CDPX2).

Keywords: Chondrodysplasia; X‐linked; prenatal; punctata; severe

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