Results 121 to 130 of about 12,560 (202)

Rhizomelic short stature with dysmorphism in two siblings due to <i>PKDCC</i> gene pathogenic variants. [PDF]

JCEM Case Rep
Guddeti A, Sridharan A, Kumar S, Sai Ramya V, Aleem S, Hari Kumar KVS.   +5 more
europepmc   +1 more source

Hypertelorism: An Unilateral Case [PDF]

Archives of Disease in Childhood, 1928
R C, Lightwood, W P, Sheldon
openaire   +2 more sources

Bilateral Cheilorhinoplasty Techniques May Be Applied to an Incomplete Rare Facial Cleft: Case Report and Literature Review. [PDF]

Plast Reconstr Surg Glob Open
Clark A, Gaal A.
europepmc   +1 more source

Schinzel-Giedion Syndrome in One of Dizygotic Twins: Confirmation of a De Novo SET Binding Protein 1 (SETBP1) Variant and Classic Multisystem Phenotype. [PDF]

Cureus
Thanugundla SR, Kothakapa SL, Ramireddy S, Chittireddy S, Krishna PV.   +4 more
europepmc   +1 more source

Prenatally Diagnosed Beare-Stevenson Cutis Gyrata Syndrome With a Novel FGFR2 Variant. [PDF]

Prenat Diagn
Crane HM, Giardine R, Strong A, Wild KT, Zackai E, Dugoff L, Sparks TN, Coleman B, Moldenhauer JS.   +8 more
europepmc   +1 more source

Advancing genotype-phenotype analysis through 3D facial morphometry: insights from Cri-du-Chat syndrome. [PDF]

J Med Genet
Vanneste M, Matthews H, Sleyp Y, Hammond P, Shriver M, Weinberg SM, Marazita ML, Walsh S, Hallgrimsson B, Klein OD, Spritz R, Van Den Bogaert K, Claes P, Peeters H.   +13 more
europepmc   +1 more source

A rare case of de novo 20p12.3 microdeletion syndrome in a nine-year-old female: case report and literature review. [PDF]

Front Genet
Aljedani H, Faden Y, Alghamdi M, Alzahrani A, Shawli A, Albakistani R.   +5 more
europepmc   +1 more source

Clinical and Molecular Features of 11 Patients with Different Subtypes of Ehlers-Danlos Syndrome. [PDF]

Mol Syndromol
Doğan Arı AB, Arı H, Sezer A, Ağırbaşlı D, Kurnaz E, Savaş Erdeve Ş, Kılıç E.   +6 more
europepmc   +1 more source

Woodhouse-Sakati Syndrome Due to the Rare DCAF17 c.321+1G>A Mutation: The Second Case Report Worldwide. [PDF]

Cureus
Baigh ZH, Sheikh JA, Dawar BMO.
europepmc   +1 more source

A novel homozygous splicing variant in FRA10AC1: further delineation of the phenotype. [PDF]

J Hum Genet
Abdel-Hamid MS, Abdel-Salam GMH.
europepmc   +1 more source