Advanced in CHST3-Related Skeletal Dysplasia

Celine Huber

Paris, FR 

Advanced in CHST3-Related Skeletal Dysplasia
Paris, FR 
OverviewLocationsClinical Research

Overview

Celine Huber practices in Paris, France. Ms. Huber is rated as an Advanced expert by MediFind in the treatment of CHST3-Related Skeletal Dysplasia. Her top areas of expertise are Polydactyly, Acromesomelic Dysplasia Campailla Martinelli Type, Acromesomelic Dysplasia, and Acromesomelic Dysplasia Maroteaux Type.

Her clinical research consists of co-authoring 48 peer reviewed articles. MediFind looks at clinical research from the past 15 years. In particular, she has co-authored 1 article in the study of CHST3-Related Skeletal Dysplasia.

Gender
Female

Locations

Paris, France

Clinical Research

Clinical research consists of overseeing clinical studies of patients undergoing new treatments and therapies, and publishing articles in peer reviewed medical journals. Experts who actively participate in clinical research are generally at the forefront of the fields and aware of the most up-to-date advances in treatments for their patients.


48 Total Publications

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.
PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.
Journal: The Journal of clinical investigation
Published: September 18, 2025
View All 48 Publications

Areas of Expertise

MediFind evaluates expertise by pulling from factors such as number of articles a doctor has published in medical journals, participation in clinical trials, speaking at industry conferences, prescribing and referral patterns, and strength of connections with other experts in their field.

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Find Ms. Huber's expertise for a condition
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  • Elite
  • Acromesomelic Dysplasia
    Ms. Huber is
    Elite
    . Learn about Acromesomelic Dysplasia.
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  • Acromesomelic Dysplasia Campailla Martinelli Type
    Ms. Huber is
    Elite
    . Learn about Acromesomelic Dysplasia Campailla Martinelli Type.
    See more Acromesomelic Dysplasia Campailla Martinelli Type experts
  • Acromesomelic Dysplasia Hunter Thompson Type
    Ms. Huber is
    Elite
    . Learn about Acromesomelic Dysplasia Hunter Thompson Type.
    See more Acromesomelic Dysplasia Hunter Thompson Type experts
  • Acromesomelic Dysplasia Maroteaux Type
    Ms. Huber is
    Elite
    . Learn about Acromesomelic Dysplasia Maroteaux Type.
    See more Acromesomelic Dysplasia Maroteaux Type experts
  • Polydactyly
    Ms. Huber is
    Elite
    . Learn about Polydactyly.
    See more Polydactyly experts
  • Distinguished
  • Achondrogenesis
    Ms. Huber is
    Distinguished
    . Learn about Achondrogenesis.
    See more Achondrogenesis experts
  • Asphyxiating Thoracic Dystrophy
    Ms. Huber is
    Distinguished
    . Learn about Asphyxiating Thoracic Dystrophy.
    See more Asphyxiating Thoracic Dystrophy experts
  • Brachydactyly Mononen Type
    Ms. Huber is
    Distinguished
    . Learn about Brachydactyly Mononen Type.
    See more Brachydactyly Mononen Type experts
  • Chondrodystrophy
    Ms. Huber is
    Distinguished
    . Learn about Chondrodystrophy.
    See more Chondrodystrophy experts
  • Desbuquois Syndrome
    Ms. Huber is
    Distinguished
    . Learn about Desbuquois Syndrome.
    See more Desbuquois Syndrome experts
  • Ellis-Van Creveld Syndrome
    Ms. Huber is
    Distinguished
    . Learn about Ellis-Van Creveld Syndrome.
    See more Ellis-Van Creveld Syndrome experts
View All 9 Distinguished Conditions
  • Advanced
  • Acromicric Dysplasia
    Ms. Huber is
    Advanced
    . Learn about Acromicric Dysplasia.
    See more Acromicric Dysplasia experts
  • Aplasia Cutis Congenita
    Ms. Huber is
    Advanced
    . Learn about Aplasia Cutis Congenita.
    See more Aplasia Cutis Congenita experts
  • CHST3-Related Skeletal Dysplasia
    Ms. Huber is
    Advanced
    . Learn about CHST3-Related Skeletal Dysplasia.
    See more CHST3-Related Skeletal Dysplasia experts
  • Clouston Syndrome
    Ms. Huber is
    Advanced
    . Learn about Clouston Syndrome.
    See more Clouston Syndrome experts
  • Congenital Bowing of Long Bones
    Ms. Huber is
    Advanced
    . Learn about Congenital Bowing of Long Bones.
    See more Congenital Bowing of Long Bones experts
  • Ectodermal Dysplasias
    Ms. Huber is
    Advanced
    . Learn about Ectodermal Dysplasias.
    See more Ectodermal Dysplasias experts
View All 11 Advanced Conditions
  • Experienced
  • 3M Syndrome
    Ms. Huber is
    Experienced
    . Learn about 3M Syndrome.
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  • Acrofacial Dysostosis Weyers Type
    Ms. Huber is
    Experienced
    . Learn about Acrofacial Dysostosis Weyers Type.
    See more Acrofacial Dysostosis Weyers Type experts
  • Amniotic Band Syndrome
    Ms. Huber is
    Experienced
    . Learn about Amniotic Band Syndrome.
    See more Amniotic Band Syndrome experts
  • Cerebellar Hypoplasia
    Ms. Huber is
    Experienced
    . Learn about Cerebellar Hypoplasia.
    See more Cerebellar Hypoplasia experts
  • Dandy-Walker Syndrome
    Ms. Huber is
    Experienced
    . Learn about Dandy-Walker Syndrome.
    See more Dandy-Walker Syndrome experts
  • GEMSS Syndrome
    Ms. Huber is
    Experienced
    . Learn about GEMSS Syndrome.
    See more GEMSS Syndrome experts
View All 20 Experienced Conditions
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