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Project
Study of monogenic cutis laxa syndromes: paradigms for elastic fiber homeostasis
Information
Project Team
Organisations
Outputs & Impact
Publications & research data ( 7 )
Study of monogenic cutis laxa syndromes : paradigms for elastic fiber homeostasis
Aude Beyens
Bert Callewaert
Sofie De Schepper
Dissertation
2025
HRAS-related epidermal nevus syndromes : expansion of the spectrum with first branchial arch defects
Aude Beyens
Charlotte Lietaer
Kathleen Claes
Elfride De Baere
Marleen Goeteyn
Bob Lerut
Hannes Syryn
Olivier Vanakker
Joni Van der Meulen
Lieve Vanwalleghem
et al.
A1
Journal Article
in
CLINICAL GENETICS
2023
ATP7A-related copper transport disorders : a systematic review and definition of the clinical subtypes
Silke De Feyter
Aude Beyens
Bert Callewaert
A1
Journal Article
in
JOURNAL OF INHERITED METABOLIC DISEASE
2023
EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis
Christin S. Adamo
Aude Beyens
Alvise Schiavinato
Douglas R. Keene
Sara F. Tufa
Matthias Morgelin
Jurgen Brinckmann
Takako Sasaki
Anja Niehoff
Maren Dreiner
et al.
A1
Journal Article
in
AMERICAN JOURNAL OF HUMAN GENETICS
2022
Phenotypic and molecular heterogeneity in mandibulofacial dysostoses : a case series from India
Rathika D. Shenoy
Vikram Shetty
Annelies Dheedene
Björn Menten
Dechamma Pandyanda Nanjappa
Gunimala Chakraborty
Patrick Sips
Anne De Paepe
Bert Callewaert
Anirban Chakraborty
A1
Journal Article
in
CLEFT PALATE-CRANIOFACIAL JOURNAL
2022
Clinical and molecular delineation of cutis laxa syndromes : paradigms for elastic fiber homeostasis (vol 1348, pg 273, 2021)
Aude Beyens
Lore Pottie
Patrick Sips
Bert Callewaert
Bookchapter
in
Progress in Heritable Soft Connective Tissue Diseases
2021
Clinical and molecular delineation of cutis laxa syndromes : paradigms for elastic fiber homeostasis
Aude Beyens
Lore Pottie
Patrick Sips
Bert Callewaert
Bookchapter
in
Progress in Heritable Soft Connective Tissue Diseases
2021
Activities ( 0 )
Results
Impact narratives ( 0 )
Patents ( 0 )