Cantú syndrome, the changing phenotype: a report of the two oldest Dutch patients

Clin Dysmorphol. 2018 Jul;27(3):78-83. doi: 10.1097/MCD.0000000000000219.

Authors

Helen I Roessler^{1

2}, Catharina M L Volker-Touw², Paulien A Terhal^{1

2}, Gijs van Haaften^{1

2}, Mieke M van Haelst^{3

4}

Affiliations

¹ Department of Genetics, Center for Molecular Medicine.
² Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht.
³ Department of Clinical Genetics, Amsterdam Medical Center, University of Amsterdam.
⁴ Department of Clinical Genetics, Free University Medical Center, Amsterdam, The Netherlands.

PMID: 29595750
DOI: 10.1097/MCD.0000000000000219

No abstract available

Publication types

Case Reports

MeSH terms

Adult
Cardiomegaly / diagnosis*
Cardiomegaly / genetics*
Cardiomegaly / metabolism
Child
Child, Preschool
Female
Humans
Hypertrichosis / diagnosis*
Hypertrichosis / genetics*
Hypertrichosis / metabolism
Male
Netherlands
Osteochondrodysplasias / diagnosis*
Osteochondrodysplasias / genetics*
Osteochondrodysplasias / metabolism
Phenotype
Sulfonylurea Receptors / genetics*
Sulfonylurea Receptors / metabolism

Substances

ABCC9 protein, human
Sulfonylurea Receptors

Supplementary concepts

Cantu syndrome