Expanding the novel <scp> <i>MAPKAPK5</i> </scp> –related developmental disorder's genotype–phenotype correlation: Patient report and 19 months of follow‐up-Reference-Cited by-同舟云学术

Expanding the novel MAPKAPK5 –related developmental disorder's genotype–phenotype correlation: Patient report and 19 months of follow‐up

Published:2022-05-21 Issue:2 Volume:102 Page:142-148
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Vecchio Davide¹²^ORCID,Cocciadiferro Dario³^ORCID,Macchiaiolo Marina¹²,Gonfiantini Michaela Veronika¹²,Agolini Emanuele³^ORCID,Matraxia Marta³,Carboni Alessia⁴,Coretti Antonella¹²,Villani Andrea³,Panfili Filippo Maria¹²,Dentici Maria Lisa¹²^ORCID,Buonuomo Paola Sabrina¹²^ORCID,Rana Ippolita¹²,Colafati Giovanna Stefania⁴,Digilio Maria Cristina¹²^ORCID,Novelli Antonio³,Bartuli Andrea¹²

Affiliation:

1. Rare Diseases and Medical Genetics Unit, Academic Department of Pediatrics Bambino Gesù Children's Hospital, IRCCS Rome Italy

2. Genetics and Rare Diseases Research Division Bambino Gesù Children's Hospital, IRCCS Rome Italy

3. Translational Cytogenomics Research Unit Bambino Gesù Children's Hospital, IRCCS Rome Italy

4. Neuroradiology Unit, Imaging Department Bambino Gesù Children's Hospital, IRCCS Rome Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14150

Reference22 articles.

1. The MEK/ERK cascade: From signaling specificity to diverse functions

2. The MAPK cascades: Signaling components, nuclear roles and mechanisms of nuclear translocation

3. Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly

4. Activation and Function of the MAPKs and Their Substrates, the MAPK-Activated Protein Kinases

5. Compromised MAPK signaling in human diseases: an update

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