A de novo KMT2D mutation in a girl with Kabuki syndrome associated with endocrine symptoms: a case report
Abstract Background Kabuki syndrome is characterized by distinctive facial features and varying degrees of growth retardation. It leads to malformations in skeletal, urogenital and cardiac structures; moreover, endocrine conditions such as premature thelarche, precocious puberty, growth hormone defi...
Saved in:
| Main Authors: | , , |
|---|---|
| Format: | Book |
| Published: |
BMC,
2018-06-01T00:00:00Z.
|
| Subjects: | |
| Online Access: | Connect to this object online. |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Internet
Connect to this object online.3rd Floor Main Library
| Call Number: |
A1234.567 |
|---|---|
| Copy 1 | Available |