Lessons on the value of long term follow-up from genetic counselling of a family with severe autosomal recessive congenital ichthyosis
Mol Genet Metab
.
2022 Apr;135(4):309-310.
doi: 10.1016/j.ymgme.2022.02.004.
Epub 2022 Feb 18.
Authors
Janine El Helou
1
,
Tracy B Perry
2
,
Natascia Anastasio
3
,
Karen A Holbrook
4
,
David S Rosenblatt
5
Affiliations
1
McGill University, Department of Human Genetics, Montreal, QC, Canada. Electronic address: Janine.elhelou.ccomtl@ssss.gouv.qc.ca.
2
McGill University, Department of Human Genetics, Montreal, QC, Canada.
3
University of Sherbrooke, Department of Pediatrics, Sherbrooke, QC, Canada. Electronic address: Natascia.Anastasio@usherbrooke.ca.
4
University of South Florida Sarasota-Manatee Campus, Sarasota, FL, USA. Electronic address: kholbrook@usf.edu.
5
McGill University, Department of Human Genetics, Montreal, QC, Canada. Electronic address: david.rosenblatt@mcgill.ca.
PMID:
35216886
DOI:
10.1016/j.ymgme.2022.02.004
No abstract available
MeSH terms
Follow-Up Studies
Genes, Recessive
Genetic Counseling*
Humans
Ichthyosis* / genetics
Mutation