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Last Updated: 10/31/2025

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Found 407 publications

Thanatophoric Dysplasia Type 1 Treated with Vosoritide: A Case Report.

Thanatophoric Dysplasia Type 1 Treated with Vosoritide: A Case Report.

Journal: Hormone research in paediatrics
Published: September 02, 2025

Thanatophoric Dysplasia With Concurrent Hydroureteronephrosis: A Rare Case Report From Rural Southern India.

Thanatophoric Dysplasia With Concurrent Hydroureteronephrosis: A Rare Case Report From Rural Southern India.

Journal: Cureus
Published: October 04, 2024

An immunohistochemical study of thanatophoric dysplasia type 1 after fetus autopsy examination.

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.

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.

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.

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.

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.

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.

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

Skeletal Dysplasia: A Case Report.

Skeletal Dysplasia: A Case Report.

Journal: Diagnostics (Basel, Switzerland)
Published: July 31, 2023

Orthopaedic Manifestations of Thanatophoric Dwarfism: A Case Report.

Orthopaedic Manifestations of Thanatophoric Dwarfism: A Case Report.

Journal: JBJS case connector
Published: July 27, 2023

Thanatophoric dysplasia in nonadherent to antenatal care in low middle income country: a rare case reports.

Thanatophoric dysplasia in nonadherent to antenatal care in low middle income country: a rare case reports.

Journal: Annals of medicine and surgery (2012)
Published: July 24, 2023
Showing 1-12 of 407

Last Updated: 10/31/2025