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A case of mucolipidosis II presenting with prenatal skeletal dysplasia and severe secondary hyperparathyroidism at birth
Ju Sun Heo, Ka Young Choi, Se Hyoung Sohn, Curie Kim, Yoon Joo Kim, Seung Han Shin, Jae Myung Lee, Juyoung Lee, Jin A Sohn, Byung Chan Lim, Jin A Lee, Chang Won Choi, Ee-Kyung Kim, Han-Suk Kim, Beyong Il Kim, Jung-Hwan Choi
Clin Exp Pediatr. 2012;55(11):438-444.   Published online November 23, 2012
DOI: https://doi.org/10.3345/kjp.2012.55.11.438

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A case of mucolipidosis II presenting with prenatal skeletal dysplasia and severe secondary hyperparathyroidism at birth
Korean Journal of Pediatrics. 2012;55(11):438   Crossref logo
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Platyspondylic lethal skeletal dysplasia San Diego type (thanatophoric dysplasia type 1) associated with trisomy 21 presenting with nuchal translucency: a case report
Prenatal Diagnosis. 2009;29(7):715-717   Crossref logo
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Mucolipidosis II presenting as severe neonatal hyperparathyroidism
European Journal of Pediatrics. 2004;164(4):236-243   Crossref logo
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Placental pathology in an unsuspected case of mucolipidosis type II with secondary hyperparathyroidism in a premature infant
Molecular Genetics and Metabolism Reports. 2021;27:100747   Crossref logo
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Prenatal growth deficiency with narrowness of the cervical spine, subglottic stenosis, hip dislocation, and severe delayed bone ossification: A new skeletal dysplasia
American Journal of Medical Genetics. 2002;112(1):70-74   Crossref logo
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Abstract #529: Mccune-Albright Syndrome and Primary Hyperparathyroidism: An Unsusual Case Presenting with Coexisting Brown Tumors and Fibrous Dysplasia
Endocrine Practice. 2017;23:115   Crossref logo
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Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome presenting with a large nephrogenic cyst, severe oligohydramnios and hydrops fetalis: a case report and review of the literature
Prenatal Diagnosis. 2005;25(3):210-215   Crossref logo
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Secondary osteosarcoma associated with osteofibrous dysplasia: a case report
Skeletal Radiology. 2022;   Crossref logo
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Case 96: Severe Genu Valgum in Skeletal Dysplasia: Acute Versus Gradual Correction
Limb Lengthening and Reconstruction Surgery Case Atlas. 2015;691-700   Crossref logo
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Prenatal diagnosis of platyspondylic skeletal dysplasia Torrance type with three-dimensional helical computed tomography
Prenatal Diagnosis. 2009;29(13):1282-1284   Crossref logo
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