Results 71 to 80 of about 40,078 (160)

First case report of a unique combination of congenital limb and skeletal anomalies mimicking VACTERL and Gollop-Wolfgang syndromes. [PDF]

Int J Surg Case Rep
Elewee A, Mayo M, Nasani MK, Mokhlalati J, Omar AAS, AlMasri F.   +5 more
europepmc   +1 more source

Cranial, Renal, and Skeletal Anomalies in a Fetus With a Pathogenic Variant in the TAFAZZIN Gene. [PDF]

Prenat Diagn
Muir CR, Gilmore KL, Singh S, Vora NL.
europepmc   +1 more source

Exploring Prenatal Signs of Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Skeletal Anomalies (CLOVES) Syndrome: A Case Report and Literature Review. [PDF]

Cureus
Henuzet E, Boon L, Dumitriu D, Peetermans L, Steenhaut P.   +4 more
europepmc   +1 more source

Prenatal diagnosis of fetal skeletal anomalies via whole-exome sequencing in a tertiary referral center. [PDF]

Sci Rep
Xue H, Yu A, Zhao W, Chen L, Fang R, Ling W, Zhang L, Guo Q, Lin N, Xu L, Huang H.   +10 more
europepmc   +1 more source

Heterozygous variants disrupting the interaction of ERF with activated ERK1/2 cause microcephaly, developmental delay, and skeletal anomalies. [PDF]

Eur J Hum Genet
Micale L, Vourlia A, Fusco C, Pracella R, Karagiannis DC, Nardella G, Vaccaro L, Leone MP, Gramazio A, Dentici ML, Aiello C, Novelli A, Xenou L, Sui Y, Eichler EE, Cacchiarelli D, Mavrothalassitis G, Castori M.   +17 more
europepmc   +1 more source

Skeletal Anomalies in The Neandertal Family of El Sidrón (Spain) Support A Role of Inbreeding in Neandertal Extinction. [PDF]

Sci Rep, 2019
Ríos L, Kivell TL, Lalueza-Fox C, Estalrrich A, García-Tabernero A, Huguet R, Quintino Y, de la Rasilla M, Rosas A.   +8 more
europepmc   +1 more source

A Novel Homozygous Missense <i>SCUBE3</i> Variant with Protein Modeling in a Patient Diagnosed as Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies 2. [PDF]

Mol Syndromol
Yeter B, Yeter B, Sezgin BI, Dilek YE, Kendir Demirkol Y, Selamioğlu A, Kırmızıbekmez H, Kaymakçalan Çelebiler H, Bayram Akçapınar G.   +8 more
europepmc   +1 more source

Five-year follow-up outcomes of comprehensive rehabilitation in Korean siblings with cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome: A case report. [PDF]

Medicine (Baltimore), 2019
Yoo SD, Han YR, Kim DH, Lee SA.
europepmc   +1 more source

Inadequate Dietary Phosphorus Levels Cause Skeletal Anomalies and Alter Osteocalcin Gene Expression in Zebrafish. [PDF]

Int J Mol Sci, 2018
Costa JM, Sartori MMP, Nascimento NFD, Kadri SM, Ribolla PEM, Pinhal D, Pezzato LE.   +6 more
europepmc   +1 more source

Novel mutation in ABBC9 gene associated with congenital hypertrichosis and acromegaloid facial features, without cardiac or skeletal anomalies: a new phenotype. [PDF]

Appl Clin Genet, 2018
Pachajoa H, López-Quintero W, Vanegas S, Montoya CL, Ramírez-Montaño D.   +4 more
europepmc   +1 more source