Editorial & Opinion
New syndrome--situs inversus totalis with cystic dysplasia of kidneys, pancreas and bowing.
| العنوان: | New syndrome--situs inversus totalis with cystic dysplasia of kidneys, pancreas and bowing. |
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| المؤلفون: | Balci S; Unit of Clinical Genetics Unit of Nephrology, Department of Pediatrics, Hacettepe University İhsan Doğramaci Children's Hospital Department of Radiology, Ankara Numune Hospital, Ankara, Turkey., Ozaltin F, Bostanoğlu S |
| المصدر: | Clinical dysmorphology [Clin Dysmorphol] 2010 Jul; Vol. 19 (3), pp. 173-174. |
| نوع المنشور: | Comment; Letter |
| اللغة: | English |
| بيانات الدورية: | Publisher: Lippincott Williams & Wilkins Country of Publication: England NLM ID: 9207893 Publication Model: Print Cited Medium: Internet ISSN: 1473-5717 (Electronic) Linking ISSN: 09628827 NLM ISO Abbreviation: Clin Dysmorphol Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: London : Lippincott Williams & Wilkins Original Publication: London, UK : Chapman & Hall, c1992- |
| مواضيع طبية MeSH: | Genu Varum/*complications , Kidney Diseases, Cystic/*complications , Pancreas/*abnormalities , Situs Inversus/*complications, Female ; Genetic Loci/genetics ; Genu Varum/genetics ; Humans ; Kidney Diseases, Cystic/genetics ; Male ; Pregnancy ; Situs Inversus/genetics ; Syndrome |
| التعليقات: | Comment on: Clin Dysmorphol. 2009 Oct;18(4):209-12. (PMID: 19550299) |
| References: | Alessandri JL, Cartault F, Brayer C, Cuillier F, Riviére JP, Ramful D, et al. 2009. Renal cystic dysplasia, paucity of bile ducts, situs inversus, bowing of the femora in two siblings in the Reunion Island: a ciliopathy. Clin Dysmorphol 18:209–212. Balci S, Bostanoglu S, Altinok G, Ozaltin F 1999. Sibs diagnosed prenatally with situs inversus totalis, renal and pancreatic dysplasia, and cysts: a new syndrome? Am J Med Genet 82:166–169. Balci S, Bostanoglu S, Altinok G, Ozaltin F 2000. Three sibs diagnosed prenatally with situs inversus totalis, renal and pancreatic dysplasia, and cysts. Am J Med Genet 90:185–187. Onuchic LF, Schrick JJ, Ma J, Hudson T, Guay-Woodford LM, Zerres K, et al. 1995. Sequence analysis of the human hTg737 gene and its polymorphic sites in patients with autosomal recessive polycystic kidney disease. Mamm Genome 6:805–808. Sommardahl C, Cottrell M, Wilkinson JE, Woychik RP, Johnson DK 2001. Phenotypic variations of orpk mutation and chromosomal localization of modifiers influencing kidney phenotype. Physiol Genomics 7:127–134. |
| تواريخ الأحداث: | Date Created: 20100610 Date Completed: 20100901 Latest Revision: 20211004 |
| رمز التحديث: | 20240628 |
| DOI: | 10.1097/MCD.0b013e32833986e3 |
| PMID: | 20530999 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1473-5717 |
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| DOI: | 10.1097/MCD.0b013e32833986e3 |