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Cranioectodermal dysplasia 4
- ... Testing Registry: Cranioectodermal dysplasia 3 Genetic Testing Registry: Cranioectodermal dysplasia 4 Cranioectodermal dysplasia National Organization for Rare Disorders (NORD) ...
- ... Am J Hum Genet. 2011 Apr 8;88(4):508-15. doi: 10.1016/j.ajhg.2011.03.015. Citation on PubMed or Free article on PubMed Central Tan W, Lin A, Keppler-Noreuil K. Cranioectodermal Dysplasia. 2013 Sep 12 [updated 2022 Dec 15]. In: ...
- ... Sci U S A. 2011 Jan 25;108(4):1456-61. doi: 10.1073/pnas.1011410108. Epub 2011 Jan 5. Citation on PubMed or Free article on PubMed Central Tan W, Lin A, Keppler-Noreuil K. Cranioectodermal Dysplasia. 2013 Sep 12 [updated 2022 Dec 15]. In: ...
- ... the IFT43 gene is a rare cause of cranioectodermal dysplasia. This condition is characterized by an elongated head ( ... and skin.The IFT43 gene mutation involved in cranioectodermal dysplasia leads to production of an abnormally short IFT43 ...