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A new case of DOOR syndrome.
J Appl Genet. 2008; 49(1):101-3.JA

Abstract

We present the case of a 9-year-old boy with DOOR syndrome recognized in the first year of his life because of a delayed development of speech. The diagnosis was based on characteristic abnormalities, including congenital deafness, nail and bone abnormalities, and mild mental retardation.

Authors+Show Affiliations

Chair and Department of Medical Genetics, Poznań University of Medical Sciences, Grunwaldzka 55, pav.15, 60-352 Poznań, Poland. mwisniew@amp.edu.plNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

18263975

Citation

Wiśniewska, Marzena, et al. "A New Case of DOOR Syndrome." Journal of Applied Genetics, vol. 49, no. 1, 2008, pp. 101-3.
Wiśniewska M, Siwińska Z, Felczak M, et al. A new case of DOOR syndrome. J Appl Genet. 2008;49(1):101-3.
Wiśniewska, M., Siwińska, Z., Felczak, M., Wielkoszyński, T., Krawczyński, M., & Latos-Bieleńska, A. (2008). A new case of DOOR syndrome. Journal of Applied Genetics, 49(1), 101-3. https://doi.org/10.1007/BF03195254
Wiśniewska M, et al. A New Case of DOOR Syndrome. J Appl Genet. 2008;49(1):101-3. PubMed PMID: 18263975.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A new case of DOOR syndrome. AU - Wiśniewska,Marzena, AU - Siwińska,Zofia, AU - Felczak,Michał, AU - Wielkoszyński,Tomasz, AU - Krawczyński,Maciej, AU - Latos-Bieleńska,Anna, PY - 2008/2/12/pubmed PY - 2008/7/31/medline PY - 2008/2/12/entrez SP - 101 EP - 3 JF - Journal of applied genetics JO - J. Appl. Genet. VL - 49 IS - 1 N2 - We present the case of a 9-year-old boy with DOOR syndrome recognized in the first year of his life because of a delayed development of speech. The diagnosis was based on characteristic abnormalities, including congenital deafness, nail and bone abnormalities, and mild mental retardation. SN - 1234-1983 UR - https://www.unboundmedicine.com/medline/citation/18263975/A_new_case_of_DOOR_syndrome_ L2 - https://dx.doi.org/10.1007/BF03195254 DB - PRIME DP - Unbound Medicine ER -