Results 131 to 140 of about 28,866 (195)

Novel compound heterozygous FAM20C variants cause Raine syndrome - retrospective prenatal diagnosis and literature review. [PDF]

Orphanet J Rare Dis
Lazarczyk E, Pilarska-Deltow M, Sowinska-Seidler A, Repczynska A, Drozniewska M, Jamsheer A, Zdrojewska A, Pasinska M, Haus O.   +8 more
europepmc   +1 more source

Facial Dysmorphism and Severe Vascular Phenotype in TRNT1 Deficiency with Concomitant Antithrombin III Deficiency. [PDF]

J Clin Immunol
Matea DM, Arghirescu ST, Chirita-Emandi A, Urtila P, Bataneant M.   +4 more
europepmc   +1 more source

Healthcare and Psychosocial Needs in Achondroplasia Across the Lifespan: Developmental Functioning, Multidisciplinary Care, and Family-Centered Outcomes. [PDF]

Healthcare (Basel)
Șerban RC, Mitut-Veliscu A, Dumitra A, Marica L, Popescu C, Costache A, Teona Ș, Riza AL, Dirnu R, Pluta ID, Varut RM, Streata I.   +11 more
europepmc   +1 more source

Dental and Dentofacial Findings in a Child With CHOPS Syndrome Managed Under General Anesthesia. [PDF]

Int J Paediatr Dent
Kerimoglu C, Kocaoglu MH, Ozalp N.
europepmc   +1 more source

A Case of Inadvertent Overdose of Vosoritide Injection in a Three-Month-Old Infant With Achondroplasia. [PDF]

Cureus
Satake S, Oda Y.
europepmc   +1 more source

Case Report: Novel <i>FOXC1</i> variant c.311T>G (p.Ile104Ser) in a Chinese family with Axenfeld-Rieger syndrome. [PDF]

Front Med (Lausanne)
Lin B, Li L, Li DK.
europepmc   +1 more source

Clinical and Molecular Characterization of a RASopathy Cohort From Türkiye and an AMMECR1-Related Noonan Syndrome-Mimicking Phenotype. [PDF]

Clin Genet
Akbaş ENK, Toksoy G, Avcı Ş, Altunoğlu U, Kalaycı T, Sayın GY, Kayserili H, Uyguner ZO, Aslanger AD.   +8 more
europepmc   +1 more source

Prenatal Diagnosis of White-Sutton Syndrome Associated With Autosomal Dominant POGZ Variants Presented With Craniofacial Abnormalities and Borderline Microcephaly Identified in the Second Trimester. [PDF]

Prenat Diagn
Liu P, Luo HY, Li DZ.
europepmc   +1 more source

Thanatophoric Dysplasia Type I Confirmed by Fibroblast Growth Factor Receptor 3 (FGFR3) Mutation: Clinical Course and Ethical Considerations. [PDF]

Cureus
Soares MI, Veríssimo P, Coelho C, Branco RA, Marçal M.   +4 more
europepmc   +1 more source

Prenatal diagnosis of apert syndrome at 23 weeks: a case report with isolated syndactyly and sacrococcygeal appendage preceding cranial malformation. [PDF]

AME Case Rep
Ge S, Lai Q, Yuan D, McGrath E.
europepmc   +1 more source