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Warburg Micro syndrome.
J Pediatr Endocrinol Metab. 2012; 25(3-4):379-82.JP

Abstract

Micro syndrome is an autosomal recessive disorder characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis, or hypoplasia of the corpus callosum and hypogenitalism. We report an 11-month-old boy who was referred for assessment of micropenis and cryptorchidism. Sequence analysis of exon 8 of the RAB3GAP1 gene confirmed the presence of a splice donor mutation (748+1G>A) in the homozygous state.

Authors+Show Affiliations

Göztepe Educational and Research Hospital, Pediatric Endocrinology Clinic, Istanbul, Turkey. fatmadursun54@yahoo.comNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

22768674

Citation

Dursun, Fatma, et al. "Warburg Micro Syndrome." Journal of Pediatric Endocrinology & Metabolism : JPEM, vol. 25, no. 3-4, 2012, pp. 379-82.
Dursun F, Güven A, Morris-Rosendahl D. Warburg Micro syndrome. J Pediatr Endocrinol Metab. 2012;25(3-4):379-82.
Dursun, F., Güven, A., & Morris-Rosendahl, D. (2012). Warburg Micro syndrome. Journal of Pediatric Endocrinology & Metabolism : JPEM, 25(3-4), 379-82.
Dursun F, Güven A, Morris-Rosendahl D. Warburg Micro Syndrome. J Pediatr Endocrinol Metab. 2012;25(3-4):379-82. PubMed PMID: 22768674.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Warburg Micro syndrome. AU - Dursun,Fatma, AU - Güven,Ayla, AU - Morris-Rosendahl,Deborah, PY - 2012/7/10/entrez PY - 2012/7/10/pubmed PY - 2012/7/25/medline SP - 379 EP - 82 JF - Journal of pediatric endocrinology & metabolism : JPEM JO - J. Pediatr. Endocrinol. Metab. VL - 25 IS - 3-4 N2 - Micro syndrome is an autosomal recessive disorder characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis, or hypoplasia of the corpus callosum and hypogenitalism. We report an 11-month-old boy who was referred for assessment of micropenis and cryptorchidism. Sequence analysis of exon 8 of the RAB3GAP1 gene confirmed the presence of a splice donor mutation (748+1G>A) in the homozygous state. SN - 0334-018X UR - https://www.unboundmedicine.com/medline/citation/22768674/Warburg_Micro_syndrome_ L2 - https://www.degruyter.com/doi/10.1515/jpem-2011-0459 DB - PRIME DP - Unbound Medicine ER -