Carpenter syndrome in a patient from Tanzania

Autor: Ben C.J. Hamel, Jay Lodhia, Marieke C. J. Dekker, Iago Rego-Garcia, David Msuya, Resie Vervenne van Spaendonk, Sengua Koipapi, Adnan Sadiq

Publikováno v: American Journal of Medical Genetics, Part A, 185(3), 986-989. Wiley-Liss Inc.
Lodhia, J, Rego-Garcia, I, Koipapi, S, Sadiq, A, Msuya, D, Spaendonk, R V V, Hamel, B & Dekker, M 2021, ' Carpenter syndrome in a patient from Tanzania ', American Journal of Medical Genetics, Part A, vol. 185, no. 3, pp. 986-989 . https://doi.org/10.1002/ajmg.a.62015
American Journal of Medical Genetics. Part A, 185, 3, pp. 986-89
American Journal of Medical Genetics. Part A, 185, 986-89

Carpenter syndrome (acrocephalopolysyndactyly type II) is a rare autosomal recessive disorder. It was clinically diagnosed in a female baby with polysyndactyly and craniosynostosis in a referral clinic in Northern Tanzania. In the RAB23 gene, a previ

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