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The KBG syndrome: confirmation of autosomal dominant inheritance and further delineation of the phenotype.
. 2004 Oct 15; 130A(3):284-7.

Abstract

We report on a Turkish family in which the father and his two sons were diagnosed as having the KBG syndrome. Large upper central incisors were the diagnostic finding in all three patients along with mental retardation, cryptorchidism, skeletal abnormalities, and short stature. Our report clearly confirms that the inheritance is autosomal dominant in KBG syndrome, although a high male to female ratio has been observed in published cases.

Authors+Show Affiliations

Division of Pediatric Genetics, Ankara University School of Medicine, Dikimevi, Ankara, Turkey. mtekin@medicine.ankara.edu.trNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

15378538

Citation

Tekin, Mustafa, et al. "The KBG Syndrome: Confirmation of Autosomal Dominant Inheritance and Further Delineation of the Phenotype." American Journal of Medical Genetics. Part A, vol. 130A, no. 3, 2004, pp. 284-7.
Tekin M, Kavaz A, Berberoğlu M, et al. The KBG syndrome: confirmation of autosomal dominant inheritance and further delineation of the phenotype. Am J Med Genet A. 2004;130A(3):284-7.
Tekin, M., Kavaz, A., Berberoğlu, M., Fitoz, S., Ekim, M., Ocal, G., & Akar, N. (2004). The KBG syndrome: confirmation of autosomal dominant inheritance and further delineation of the phenotype. American Journal of Medical Genetics. Part A, 130A(3), 284-7.
Tekin M, et al. The KBG Syndrome: Confirmation of Autosomal Dominant Inheritance and Further Delineation of the Phenotype. Am J Med Genet A. 2004 Oct 15;130A(3):284-7. PubMed PMID: 15378538.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The KBG syndrome: confirmation of autosomal dominant inheritance and further delineation of the phenotype. AU - Tekin,Mustafa, AU - Kavaz,Asli, AU - Berberoğlu,Merih, AU - Fitoz,Suat, AU - Ekim,Mesiha, AU - Ocal,Gönül, AU - Akar,Nejat, PY - 2004/9/21/pubmed PY - 2005/2/9/medline PY - 2004/9/21/entrez SP - 284 EP - 7 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 130A IS - 3 N2 - We report on a Turkish family in which the father and his two sons were diagnosed as having the KBG syndrome. Large upper central incisors were the diagnostic finding in all three patients along with mental retardation, cryptorchidism, skeletal abnormalities, and short stature. Our report clearly confirms that the inheritance is autosomal dominant in KBG syndrome, although a high male to female ratio has been observed in published cases. SN - 1552-4825 UR - https://www.unboundmedicine.com/medline/citation/15378538/The_KBG_syndrome:_confirmation_of_autosomal_dominant_inheritance_and_further_delineation_of_the_phenotype_ L2 - https://doi.org/10.1002/ajmg.a.30291 DB - PRIME DP - Unbound Medicine ER -