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Novel Mutation in PTHLH Related to Brachydactyly Type E2 Initially Confused with Unclassical Pseudopseudohypoparathyroidism
Jihong Bae, Hong Seok Choi, So Young Park, Do-Eun Lee, Sihoon Lee
Endocrinol Metab. 2018;33(2):252-259.   Published online June 21, 2018
DOI: https://doi.org/10.3803/EnM.2018.33.2.252

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Novel Mutation in PTHLH Related to Brachydactyly Type E2 Initially Confused with Unclassical Pseudopseudohypoparathyroidism
Endocrinology and Metabolism. 2018;33(2):252   Crossref logo
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Exome sequencing reveals a novel PTHLH mutation in a Chinese pedigree with brachydactyly type E and short stature
Clinica Chimica Acta. 2015;446:9-14   Crossref logo
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Pseudopseudohypoparathyroidism: A Diagnostic Consideration in a Patient with Brachydactyly
The Journal of Pediatrics. 2018;196:321   Crossref logo
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A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2
European Journal of Human Genetics. 2006;14(12):1248-1254   Crossref logo
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Novel mutation in theBMPR1Bgene (R486L) in a polish family and further delineation of the phenotypic features ofBMPR1B-Related brachydactyly
Birth Defects Research Part A: Clinical and Molecular Teratology. 2015;103(6):567-572   Crossref logo
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The p.R56* mutation in PTHLH causes variable brachydactyly type E
American Journal of Medical Genetics Part A. 2017;173(3):816-819   Crossref logo
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Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1
American Journal of Medical Genetics Part A. 2003;124A(4):356-363   Crossref logo
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Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia
European Journal of Human Genetics. 2016;24(8):1132-1136   Crossref logo
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Deletion and Point Mutations of PTHLH Cause Brachydactyly Type E
The American Journal of Human Genetics. 2010;86(3):434-439   Crossref logo
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Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH gene
Journal of Human Genetics. 2016;61(5):457-461   Crossref logo
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