Results 131 to 140 of about 17,999 (210)

Polydactyly

, 2021
openaire   +1 more source

De Novo GLI2 Missense Variant in a Child With Isolated Hypopituitarism and Craniofacial Anomalies: Expanding the Phenotypic Spectrum. [PDF]

Mol Genet Genomic Med
Goel H, Harrison K.
europepmc   +1 more source

Bardet-Biedl Syndrome: Report of a Classical Case from North India. [PDF]

Ann Afr Med
Kapoor D, Chaudhary SC, Khandelwal A, Pancholi C, Sinha S, Pal T.   +5 more
europepmc   +1 more source

Bi-allelic INTU variants define a ciliopathy disorder characterized by orofacial, digital, and cardiac anomalies. [PDF]

HGG Adv
Rushforth R, Reynolds K, Estes SI, Nolan DK, Mori M, Koboldt DC, Hunter JM, Stottmann RW.   +7 more
europepmc   +1 more source

A Prenatal Case of Focal Dermal Hypoplasia With Split Hand/Foot Malformation, Lack of Characteristic Skin Findings, Renal Agenesis, and Coloboma Due To a Novel PORCN Variant. [PDF]

Prenat Diagn
Jackson M, Suchet I, Langdon K, Chadha R, Yu W, Chan ES, Thomas MA.   +6 more
europepmc   +1 more source

Psychosis as a rare neuropsychiatric manifestation of Bardet-Biedl syndrome: A case report. [PDF]

J Int Med Res
Moremi S, Hubona M, Maphorisa T, Olashore AA.   +3 more
europepmc   +1 more source

Using the Fluorescence In Situ Hybridization in the Diagnosis of Trisomy 13 in a Male Newborn From Mali. [PDF]

Clin Case Rep
Maiga AB, Samassekou O, Sidibé CO, Traoré O, Maiga B, Traoré M, Guinto CO, Landouré G.   +7 more
europepmc   +1 more source

First Trimester Identification of a Recurrent Case of Short-rib Thoracic Dysplasia due to Novel <i>NEK1</i> Variations with Small Thorax and Polydactyly. [PDF]

J Med Ultrasound
Chen YS, Li DZ.
europepmc   +1 more source

Challenges in postoperative management of a patient with primary ciliary dyskinesia and Joubert syndrome and related disorders with congenital heart disease. [PDF]

BMJ Case Rep
Kumasaka I, Takushi H, Watanabe T, Ota C.   +3 more
europepmc   +1 more source

Tetrapolydactyly and Hydrocolpos in an Infant: Neuroimaging Gives Clue to the Diagnosis. [PDF]

Ann Indian Acad Neurol
Bhanudeep S, Koneti BB.
europepmc   +1 more source