Facial comedonal acne in orofaciodigital syndrome type 1 caused by a novel frameshift variant in OFD1

Clin Exp Dermatol. 2019 Aug;44(6):706-708. doi: 10.1111/ced.13847. Epub 2018 Nov 28.

Authors

R Rotunno¹, A Diociaiuti¹, E Agolini², S Latorre³, C Carnevale¹, A Novelli², M El Hachem¹, M Castori⁴

Affiliations

¹ Dermatology Unit, Bambino Gesù Children's Hospital, IRCCS, Piazza Sant'Onofrio, 4, 00165, Rome, Italy.
² Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
³ Plastic and Maxillofacial Surgery Unit, Children's Hospital Bambino Gesù, Rome, Italy.
⁴ Division of Medical Genetics, IRCCS-Casa Sollievo della Sofferenza, S. Giovanni Rotondo, Foggia, Italy.

PMID: 30484888
DOI: 10.1111/ced.13847

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Acne Vulgaris / etiology
Acne Vulgaris / genetics*
Agenesis of Corpus Callosum / diagnostic imaging
Agenesis of Corpus Callosum / etiology
Agenesis of Corpus Callosum / genetics*
Female
Frameshift Mutation
Humans
Infant
Lateral Ventricles / abnormalities
Lateral Ventricles / diagnostic imaging
Orofaciodigital Syndromes / complications
Orofaciodigital Syndromes / diagnosis
Orofaciodigital Syndromes / genetics*
Proteins / genetics*

Substances

OFD1 protein, human
Proteins

Supplementary concepts

Orofaciodigital syndrome type1