Thanatophoric Dysplasia Latest Advances
Find the Latest Research About Thanatophoric Dysplasia
Last Updated: 04/28/2026
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Found 410 publications
The Clinical Utility of Whole-Exome Sequencing in the Prenatal Diagnosis of Fetal Skeletal Dysplasia.
Journal: International journal of women's health
Published: October 27, 2025
Thanatophoric Dysplasia Type 1 Treated with Vosoritide: A Case Report.
Journal: Hormone research in paediatrics
Published: September 02, 2025
An immunohistochemical study of thanatophoric dysplasia type 1 after fetus autopsy examination.
Journal: Congenital anomalies
Published: May 13, 2024
Perinatal imaging findings of a fetus with Pfeiffer syndrome and a heterozygous c.1019A>G, p.Tyr340Cys (Y340C) mutation in FGFR2 presenting a cloverleaf skull, craniosynostosis and short limbs on prenatal ultrasound mimicking thanatophoric dysplasia type II.
Journal: Taiwanese journal of obstetrics & gynecology
Published: March 22, 2024
Laparoscopic herniorrhaphy for inguinal hernia with thanatophoric dysplasia: A case report.
Journal: Asian journal of endoscopic surgery
Published: March 08, 2024
A Single Multiplex PCR and Single-Nucleotide Extension Assay for the Detection of Common Thanatophoric Dysplasia I and II Mutations.
Journal: The Journal of molecular diagnostics : JMD
Published: February 06, 2024
De novo variants of dominant monogenic disorders in Vietnam detected by a noninvasive prenatal test: a case series.
Journal: Personalized medicine
Published: November 08, 2023
Diagnosis of thanatophoric dysplasia using clinical exome screening.
Journal: Ceska gynekologie
Published: November 06, 2023
A case of long-term survival of SADDAN treated with growth hormone for marked short stature.
Journal: Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology
Published: October 27, 2023
Last Updated: 04/28/2026