Carpenter Syndrome Latest Advances

RAB23 loss-of-function mutation causes context-dependent ciliopathy in Carpenter syndrome.

Journal: PLoS genetics

Published: February 10, 2025

Structural basis for Rab23 activation and a loss-of-function mutation in Carpenter syndrome.

Journal: The Journal of biological chemistry

Published: September 28, 2024

A Rare Case of Carpenter Syndrome and Its Unique Association With Chronic Kidney Disease.

Journal: Cureus

Published: February 16, 2024

The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients.

Journal: European journal of human genetics : EJHG

Published: January 18, 2024

RAB23 regulates musculoskeletal development and patterning.

Journal: Frontiers in cell and developmental biology

Published: September 20, 2022

Distinct Synaptic Vesicle Proteomic Signatures Associated with Pre- and Post-Natal Oxycodone-Exposure.

Journal: Cells

Published: March 19, 2022

Drosophila Homolog of the Human Carpenter Syndrome Linked Gene, MEGF8, Is Required for Synapse Development and Function.

Journal: The Journal of neuroscience : the official journal of the Society for Neuroscience

Published: March 06, 2022

Complex craniosynostosis in the context of Carpenter's syndrome.

Journal: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery

Published: April 26, 2021

Expansion of the phenotypic and mutational spectrum of Carpenter syndrome.

Journal: European journal of medical genetics

Published: April 10, 2021

Sanjad Sakati syndrome and sleep-disordered breathing: an undisclosed association.

Journal: Sleep & breathing = Schlaf & Atmung

Published: March 18, 2021

The limits of clinical findings in similar phenotypes, from Carpenter to ATRX syndrome using a whole exome sequencing approach: a case review.

Journal: Human genomics

Published: March 08, 2021

Characterization of a complex phenotype (fever-dependent recurrent acute liver failure and osteogenesis imperfecta) due to NBAS and P4HB variants.

Journal: Molecular genetics and metabolism

Published: October 06, 2020

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RAB23 loss-of-function mutation causes context-dependent ciliopathy in Carpenter syndrome.

RAB23 loss-of-function mutation causes context-dependent ciliopathy in Carpenter syndrome.

Structural basis for Rab23 activation and a loss-of-function mutation in Carpenter syndrome.

Structural basis for Rab23 activation and a loss-of-function mutation in Carpenter syndrome.

A Rare Case of Carpenter Syndrome and Its Unique Association With Chronic Kidney Disease.

A Rare Case of Carpenter Syndrome and Its Unique Association With Chronic Kidney Disease.

The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients.

The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients.

RAB23 regulates musculoskeletal development and patterning.

RAB23 regulates musculoskeletal development and patterning.

Distinct Synaptic Vesicle Proteomic Signatures Associated with Pre- and Post-Natal Oxycodone-Exposure.

Distinct Synaptic Vesicle Proteomic Signatures Associated with Pre- and Post-Natal Oxycodone-Exposure.

Drosophila Homolog of the Human Carpenter Syndrome Linked Gene, MEGF8, Is Required for Synapse Development and Function.

Drosophila Homolog of the Human Carpenter Syndrome Linked Gene, MEGF8, Is Required for Synapse Development and Function.

Complex craniosynostosis in the context of Carpenter's syndrome.

Complex craniosynostosis in the context of Carpenter's syndrome.

Expansion of the phenotypic and mutational spectrum of Carpenter syndrome.

Expansion of the phenotypic and mutational spectrum of Carpenter syndrome.

Sanjad Sakati syndrome and sleep-disordered breathing: an undisclosed association.

Sanjad Sakati syndrome and sleep-disordered breathing: an undisclosed association.

The limits of clinical findings in similar phenotypes, from Carpenter to ATRX syndrome using a whole exome sequencing approach: a case review.

The limits of clinical findings in similar phenotypes, from Carpenter to ATRX syndrome using a whole exome sequencing approach: a case review.

Characterization of a complex phenotype (fever-dependent recurrent acute liver failure and osteogenesis imperfecta) due to NBAS and P4HB variants.

Characterization of a complex phenotype (fever-dependent recurrent acute liver failure and osteogenesis imperfecta) due to NBAS and P4HB variants.