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Identification of a heterozygous ACAN mutation in a 15-year-old boy with short stature who presented with advanced bone age: a case report and review of the literature | |
Tae Youp Kim, Kyung Mi Jang, Chang Won Keum, Seung Hwan Oh, Woo Yeong Chung | |
Ann Pediatr Endocrinol Metab. 2020;25(4):272-276. Published online July 29, 2020 DOI: https://doi.org/10.6065/apem.1938198.099 |
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Identification of a heterozygous ACAN mutation in a 15-year-old boy with short stature who presented with advanced bone age: a case report and review of the literature Case report: A novel heterozygous frameshift mutation of ACAN in a Chinese family with short stature and advanced bone age Identification of a novel heterozygous mutation of ACAN in a Korean family with proportionate short stature A Novel Mutation c.841C>T in COPA Syndrome of an 11-Year-Old Boy: A Case Report and Short Literature Review A 14-year-old boy with short stature and snoring A 15-Year-Old Boy with Primary Maxillary Bone Anaplastic Lymphoma Kinase-Positive Anaplastic Large Cell Lymphoma Relapsed with Rib Metastasis after Spontaneous Remission of a Maxillary Bone Lesion: A Case Report and Literature Review Whole-exome sequencing reveals a heterozygous LRP5 mutation in a 6-year-old boy with vertebral compression fractures and low trabecular bone density Abstract #927: Azoospermia in a 32 Year Old Nigeria Male Who Presented with Gynaecomasia- A Case Report and Review of Literature Plasma cell dyscrasia in a 15-year-old boy: Case report and review of the literature Intra-abdominal mass and iron deficiency anemia in a 15-year-old boy: Case report and literature review |