Phenotypic description of two adult brothers presenting with mild form of Smith-Lemli-Opitz syndrome

Clin Dysmorphol. 2019 Jul;28(3):154-156. doi: 10.1097/MCD.0000000000000276.

Authors

Ewelina M Olech¹, Karolina Matuszewska^{1

2}, Michał Piechota², Anna Latos-Bieleńska^{1

2}, Aleksander Jamsheer^{1

2}

Affiliations

¹ Department of Medical Genetics, University of Medical Sciences in Poznan.
² Centers for Medical Genetics GENESIS, Grudzieniec, Poznan, Poland.

PMID: 30925529
DOI: 10.1097/MCD.0000000000000276

No abstract available

Publication types

Case Reports

MeSH terms

Adult
Humans
Male
Oxidoreductases Acting on CH-CH Group Donors / genetics*
Oxidoreductases Acting on CH-CH Group Donors / metabolism
Phenotype
Siblings
Smith-Lemli-Opitz Syndrome / physiopathology*

Substances

Oxidoreductases Acting on CH-CH Group Donors
7-dehydrocholesterol reductase