Comprehensive investigation of the phenotype of MEF2C‐related disorders in human patients: A systematic review

JA Cooley Coleman, SM Sarasua… - American Journal of …, 2021 - Wiley Online Library
MEF2C‐related disorders (aka MEF2C‐haploinsufficiency) are caused by variations in or
involving the MEF2C gene and are characterized by intellectual disability, developmental …

Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases

N Vegas, Z Demir, CT Gordon, S Breton… - Human …, 2022 - Wiley Online Library
Auriculocondylar syndrome (ACS) is a rare craniofacial disorder characterized by
mandibular hypoplasia and an auricular defect at the junction between the lobe and helix …

Variable paralog expression underlies phenotype variation

R Bailon-Zambrano, J Sucharov, A Mumme-Monheit… - Elife, 2022 - elifesciences.org
Human faces are variable; we look different from one another. Craniofacial disorders further
increase facial variation. To understand craniofacial variation and how it can be buffered, we …

Selective breeding modifies mef2ca mutant incomplete penetrance by tuning the opposing Notch pathway

J Sucharov, K Ray, EP Brooks, JT Nichols - PLoS genetics, 2019 - journals.plos.org
Deleterious genetic mutations allow developmental biologists to understand how genes
control development. However, not all loss of function genetic mutants develop phenotypic …

Auriculocondylar syndrome 2 caused by a novel PLCB4 variant in a male Chinese neonate: A case report and review of the literature

Y Zhang, Y Zhao, L Dai, Y Liu… - Molecular Genetics & …, 2024 - Wiley Online Library
Background Auriculocondylar syndrome (ARCND) is a rare congenital craniofacial
developmental malformation syndrome of the first and second pharyngeal arches with …

A Technique of Autologous Costal Cartilage Graft Combined With Auricular Cartilage Folding to Correct Question Mark Ear in a Single Procedure

B He, B Wang, Q Zhang - Ear, Nose & Throat Journal, 2024 - journals.sagepub.com
Background: Question mark ear is a rare congenital deformity, mainly characterized the
interruption of the natural continuity between the lower border of the helix and the earlobe. In …

[引用][C] Étude des “Topologically Associated Domains (TADs)” dans les anomalies du développement

A Trimouille