The diagnostic dilemma of rothmund-thomson syndrome Type II: A rare disorder with a novel mutation in the RECQL4 gene in an Indian Boy
Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder caused by homozygous or compound heterozygous mutations in RECQL4 gene and has characteristic clinical features of poikiloderma, congenital bone defects, gastrointestinal disturbances such as chronic diarrhea and vomiting, and an...
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| Main Authors: | , , , |
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| Format: | Book |
| Published: |
Wolters Kluwer Medknow Publications,
2022-01-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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Internet
Connect to this object online.3rd Floor Main Library
| Call Number: |
A1234.567 |
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| Copy 1 | Available |