Novel Mutation in Related to Brachydactyly Type E2 Initially Confused with Unclassical Pseudopseudohypoparathyroidism
BackgroundAutosomal-dominant brachydactyly type E is a congenital abnormality characterized by small hands and feet, which is a consequence of shortened metacarpals and metatarsals. We recently encountered a young gentleman exhibiting shortening of 4th and 5th fingers and toes. Initially, we suspect...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Academya Publishing Co.
2018-06-01
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| Series: | Endocrinology and Metabolism |
| Subjects: | |
| Online Access: | https://e-enm.org/Synapse/Data/PDFData/2008ENM/enm-33-252.pdf |