Smith-lemli-opitz Syndrome
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Last Posted: Mar 09, 2023
- Vitamin D levels in Smith-Lemli-Opitz syndrome.
Movassaghi Miyad, et al. American journal of medical genetics. Part A 2017 0 (10) 2577-2583 - Anthropometric characteristics of 65 Polish Smith-Lemli-Opitz patients.
Ró?d?y?ska-?wi?tkowska A, et al. Journal of applied genetics 2021 0 (3) 469-475 - Identification of recurrent pathogenic alleles using exome sequencing data: Proof-of-concept study of Russian subjects.
Orlov Igor E, et al. European journal of medical genetics 2022 0 (2) 104426 - Clinical validity and utility of preconception expanded carrier screening for the management of reproductive genetic risk in IVF and general population.
Capalbo A et al. Human reproduction (Oxford, England) 2021 - Carrier frequency and incidence estimation of Smith-Lemli-Opitz syndrome in East Asian populations by Genome Aggregation Database (gnomAD) based analysis.
Park Jong Eun et al. Orphanet journal of rare diseases 2021 16(1) 166 - Occurrence of c.976 G>T (p.Val326Leu) and c.452 G>A (p.Trp151Ter) variants in DHCR7 gene in population of polish women with recurrent miscarriage.
Chrzanowska-Stegli?ska Marta, et al. European journal of obstetrics, gynecology, and reproductive biology 2020 6 252-255 - Smith-Lemli-Opitz syndrome: clinical and biochemical correlates.
Donoghue Sarah E et al. Journal of pediatric endocrinology & metabolism : JPEM 2018 Mar 31(4) 451-459 - Clinical utility gene card for: Smith-Lemli-Opitz Syndrome [SLOS].
- Maternal ABCA1 genotype is associated with severity of Smith-Lemli-Opitz syndrome and with viability of patients homozygous for null mutations.
Lanthaler B, et al. European journal of human genetics : EJHG 2012 8 - Smith-Lemli-Opitz syndrome
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- Page last reviewed:Feb 1, 2024
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