Articles with "mutations pcnt" as a keyword



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Novel compound heterozygous mutations of PCNT gene in MOPD type II with central precocious puberty

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Published in 2020 at "Gynecological Endocrinology"

DOI: 10.1080/09513590.2020.1827382

Abstract: Abstract We report on a 6-year and 11-month old girl with short stature, microcephaly, proboscis nose, small teeth, left breast Tanner stage II, and nasopharynx adenoid hypertrophy. Her gestational age was 37 weeks and birth weight… read more here.

Keywords: precocious puberty; mutations pcnt; central precocious; pcnt gene ... See more keywords