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Exploring the Micro-Mosaic Landscape of <i>FGFR3</i> Mutations in the Ageing Male Germline and Their Potential Implications in Meiotic Differentiation. [PDF]

Genes (Basel)
Striedner Y, Arbeithuber B, Moura S, Nowak E, Reinhardt R, Muresan L, Salazar R, Ebner T, Tiemann-Boege I.   +8 more
europepmc   +1 more source

High-output cardiac failure in a fetus with thanatophoric dysplasia associated with large placental chorioangioma: Case report

Journal of Clinical Ultrasound, 2012
Placental chorioangioma is an angioma arising from chorionic tissue. Fetal thanatophoric dysplasia is a lethal skeletal dysplasia due to mutation of fibroblast growth factor receptor 3 gene.
Fuat Akercan, Burak Zeybek
exaly   +2 more sources

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Development of individuals with thanatophoric dysplasia surviving beyond infancy

Pediatrics International, 2022
Hiroaki Shibahara, Hideaki Sawai, Hironao Numabe   +2 more
exaly  

Thanatophoric dysplasia: An autosomal dominant condition?

American Journal of Medical Genetics, Part A, 1988
M L Martinez-Frías, J Salvador
exaly  

Thanatophoric dysplasia and cloverleaf skull

American Journal of Medical Genetics, Part A, 1987
Leonard O Langer, S Samuel Yang
exaly  

Antenatal sonographic diagnosis of thanatophoric dysplasia: a report of three cases and a review of the literature with special emphasis on the differential diagnosis

Ultrasound in Obstetrics and Gynecology, 1996
R L Schild
exaly  

Thanatophoric Dysplasia: Autopsy Findings over a 25-Year Period

Pediatric and Developmental Pathology, 2013
Christina Vogt
exaly  

Neuropathologic findings in thanatophoric dysplasia

Acta Neuropathologica, 1984
S Samuel Yang, Ho K -L, K L Ho
exaly  

Discordance for the Kleeblattschädel anomaly in monozygotic twins with thanatophoric dysplasia

American Journal of Medical Genetics, Part A, 1983
William A Horton, Debra L Collins
exaly  

The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US†

American Journal of Medical Genetics, Part A, 2008
Paul Romitti, Gary M Shaw, Dorothy K Waller   +2 more
exaly