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Balkan Journal of Medical Genetics
Volume 21 (2018): Issue 2 (December 2018)
Open Access
Characteristic diagnostic clues of metatropic dysplasia: The lumbothoracic humpback with dumbbell appearance of the long bones
Z Gucev
Z Gucev
,
G Kalcev
G Kalcev
,
N Laban
N Laban
,
Z Bozinovski
Z Bozinovski
,
N Popovski
N Popovski
,
A Saveski
A Saveski
,
B Daskalov
B Daskalov
,
D Plaseska-Karanfilska
D Plaseska-Karanfilska
and
V Tasic
V Tasic
| Dec 31, 2018
Balkan Journal of Medical Genetics
Volume 21 (2018): Issue 2 (December 2018)
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Article Category:
Case Report
Published Online:
Dec 31, 2018
Page range:
35 - 38
DOI:
https://doi.org/10.2478/bjmg-2018-0025
Keywords
A dumbbell appearance
,
Kyphosis
,
Metatropic dysplasia
,
gene mutation
© 2018 Gucev Z, Kalcev G, Laban N, Bozinovski Z, Popovski N, Saveski A, Daskalov B, Plaseska-Karanfilska D, Tasic V, published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.
Z Gucev
Department for Endocrinology and Genetics, University Children’s Hospital, Medical Faculty Skopje,
Skopje, Republic of Macedonia
G Kalcev
Department for Endocrinology and Genetics, University Children’s Hospital, Medical Faculty Skopje,
Skopje, Republic of Macedonia
N Laban
Department of Ophthalmology, Clinic for Endocronology, Diabetes and Metabolic Diseases, Medical Faculty Skopje
Skopje, Republic of Macedonia
Z Bozinovski
Orthopedic Clinic, Medical Faculty Skopje
Skopje, Republic of Macedonia
N Popovski
Orthopedic Clinic, Medical Faculty Skopje
Skopje, Republic of Macedonia
A Saveski
Orthopedic Clinic, Medical Faculty Skopje
Skopje, Republic of Macedonia
B Daskalov
Department of Roentgenology, Hospital Remedika
Skopje, Republic of Macedonia
D Plaseska-Karanfilska
Research Centre for Genetic Engineering and Biotechnology “Georgi D. Efremov”, Macedonian Academy of Sciences and Arts
Skopje, Republic of Macedonia
V Tasic
Department of Nephrology, University Children’s Hospital, Medical Faculty Skopje
Skopje, Republic of Macedonia