| Autor: |
Francisca, Díaz-González, Saruchi, Wadhwa, Maria, Rodriguez-Zabala, Somesh, Kumar, Miriam, Aza-Carmona, Lucia, Sentchordi-Montané, Milagros, Alonso, Istaq, Ahmad, Sana, Zahra, Deepak, Kumar, Neetu, Kushwah, Uzma, Shamim, Haseena, Sait, Seema, Kapoor, Belen, Roldán, Gen, Nishimura, Amaka C, Offiah, Mohammed, Faruq, Karen E, Heath |
| Rok vydání: |
2020 |
| Předmět: |
|
| Zdroj: |
Journal of medical genetics. 59(1) |
| ISSN: |
1468-6244 |
| Popis: |
C-type natriuretic peptide (CNP), its endogenous receptor, natriuretic peptide receptor-B (NPR-B), as well as its downstream mediator, cyclic guanosine monophosphate (cGMP) dependent protein kinase II (cGKII), have been shown to play a pivotal role in chondrogenic differentiation and endochondral bone growth. In humans, biallelic variants inExome sequencing was performed in two girls with severe short stature due to acromesomelic limb shortening, brachydactyly, mild to moderate platyspondyly and progressively increasing metaphyseal alterations of the long bones. Functional characterisation was undertaken for the identified variants.Two homozygousIn conclusion, we have clinically and molecularly characterised a new acromesomelic dysplasia, acromesomelic dysplasia, PRKG2 type (AMDP). |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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