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Anal atresia, coloboma, microphthalmia, and nasal skin tag in a female patient with 3.5 Mb deletion of 3q26 encompassing SOX2.
Am J Med Genet A. 2013 Jun;161A(6):1421-4. doi: 10.1002/ajmg.a.35883. Epub 2013 Apr 23.
Am J Med Genet A. 2013.
PMID: 23613260
Recurrent hypoglycemia due to growth hormone deficiency in an infant with Turner syndrome.
Bonfig W, Salem NJ, Heiliger K, Hempel M, Lederer G, Bornkamm M, Wieland K, Lohse P, Burdach S, Oexle K.
Bonfig W, et al. Among authors: salem nj.
J Pediatr Endocrinol Metab. 2012;25(9-10):991-5. doi: 10.1515/jpem-2012-0103.
J Pediatr Endocrinol Metab. 2012.
PMID: 23426831
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