Novel de novo mutation in ZBTB20 in primrose syndrome in boy with short stature

Sigrún Grímsdóttir; Hanne B Hove; Sven Kreiborg; Jakob Ek; Anders Johansen; Tron A Darvann; Nuno V Hermann

doi:10.1097/MCD.0000000000000244

Novel de novo mutation in ZBTB20 in primrose syndrome in boy with short stature

Clin Dysmorphol. 2019 Jan;28(1):41-45. doi: 10.1097/MCD.0000000000000244.

Authors

Sigrún Grímsdóttir^{1

2

3}, Hanne B Hove^{4

5}, Sven Kreiborg^{1

6

2

3}, Jakob Ek⁷, Anders Johansen⁸, Tron A Darvann^{1

2

9

3}, Nuno V Hermann^{1

6

2

3}

Affiliations

¹ 3D Craniofacial Image Research Laboratory, School of Dentistry.
² Centre of Head and Orthopaedics.
³ Department of Applied Mathematics and Computer Science, Technical University of Denmark, Kongens Lyngby, Denmark.
⁴ Department of Pediatrics, Division of Rare Diseases.
⁵ Department of Pediatrics, The RAREDIS Database, Division of Rare Diseases, Copenhagen University Hospital, Rigshospitalet, Copenhagen.
⁶ Department of Pediatric Dentistry and Clinical Genetics, School of Dentistry, Faculty of Health Sciences, University of Copenhagen.
⁷ Department of Clinical Genetics.
⁸ Department of Growth and Reproduction.
⁹ Department of Oral and Maxillofacial Surgery, Copenhagen University Hospital Rigshospitalet.

PMID: 30256248
DOI: 10.1097/MCD.0000000000000244

No abstract available

MeSH terms

Abnormalities, Multiple / genetics*
Abnormalities, Multiple / metabolism
Adolescent
Calcinosis / genetics*
Calcinosis / metabolism
Dwarfism / genetics
Ear Diseases / genetics*
Ear Diseases / metabolism
Humans
Intellectual Disability / genetics*
Intellectual Disability / metabolism
Male
Muscular Atrophy / genetics*
Muscular Atrophy / metabolism
Mutation
Nerve Tissue Proteins / genetics*
Nerve Tissue Proteins / physiology*
Transcription Factors / genetics*
Transcription Factors / physiology*

Substances

Nerve Tissue Proteins
Transcription Factors
ZBTB20 protein, human

Supplementary concepts

Primrose syndrome