P431: Expanding the genotypic and phenotypic description of an ultra-rare condition: A neonatal presentation of spondylo-ocular syndrome
Saved in:
| Main Authors: | Burak Altintas, Maria Stunkel, Gary Gottesman, Jennifer Heeley |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-01-01
|
| Series: | Genetics in Medicine Open |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2949774425013378 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
P400: Rare case of spondylo-ocular syndrome diagnosed in siblings from North India
by: Sakshi Rajoria, et al.
Published: (2025-01-01) -
Ultra-Processed Food Consumption and Cholelithiasis: A Prospective Study of 122,431 Adults
by: Xiao Chen, et al.
Published: (2025-05-01) -
A Review of the Ocular Phenotype and Correlation with Genotype in Poretti–Boltshauser Syndrome
by: Won Young Moon, et al.
Published: (2025-05-01) -
Expansion of genotypic and phenotypic findings in ADAMTS18-related ocular pathology
by: Ari H. August, et al.
Published: (2025-03-01) -
Expanding genotype-phenotype correlation of Kenny-Caffey syndrome type 1
by: Manuela Lo Bianco, et al.
Published: (2025-08-01)