CNNM2-Related Disorders: Phenotype and Its Severity Were Associated With the Mode of Inheritance
CNNM2 (Cystathionine-β-synthase-pair Domain Divalent Metal Cation Transport Mediator 2) pathogenic variants have been reported to cause hypomagnesemia, epilepsy, and intellectual disability/developmental delay (ID/DD). We identified two new cases with CNNM2 novel de novo pathogenic variants, c.814T&...
I tiakina i:
| Ngā kaituhi matua: | , , |
|---|---|
| Hōputu: | Pukapuka |
| I whakaputaina: |
Frontiers Media S.A.,
2021-09-01T00:00:00Z.
|
| Ngā marau: | |
| Urunga tuihono: | Connect to this object online. |
| Ngā Tūtohu: |
Tāpirihia he Tūtohu
Kāore He Tūtohu, Me noho koe te mea tuatahi ki te tūtohu i tēnei pūkete!
|
Ipurangi
Connect to this object online.3rd Floor Main Library
| Tau karanga: |
A1234.567 |
|---|---|
| Tārua 1 | Wātea |