Results 121 to 130 of about 16,006 (225)

Perioperative Care of a Four-Year-Old Child With Teebi Hypertelorism Syndrome: A Rare Craniofacial Disorder. [PDF]

J Med Cases
Abdelhady E, Tobias JD.
europepmc   +1 more source

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

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

Femoral-tibial-synostosis in a child with Roberts syndrome (Pseudothalidomide): a case report [PDF]

, 2008

core   +1 more source

Disruption of SPECC1L translation initiation by intragenic deletion: novel pathogenic mechanism in Teebi-hypertelorism syndrome. [PDF]

NPJ Genom Med
Babai A, Oliveira D, Gialeli A, Drozniewska M, Kainov Y, Dias C.   +5 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

ASXL3 gene variants causing Bainbridge-Ropers syndrome: clinical and genetic analysis of four Chinese patients. [PDF]

Front Neurosci
Yang Q, Zhang Q, Zhou X, Yi S, Qin Z, Yi S, He S, Luo J.   +7 more
europepmc   +1 more source

Case Report: Identification of a <i>de novo</i> missense variant in the N-terminal zinc-finger domain of <i>ZEB2</i> in a patient presenting with neurodevelopmental delay and recurrent pulmonary infections. [PDF]

Front Genet
Chen J, Jiang X, Su W, Li J, Chen S, Xu K, Teng J, Zhang W, Zhu H.   +8 more
europepmc   +1 more source

[Hypertelorism].

Pediatria polska, 1971
M, Jaworska, W, Poradowska, A, Hilgier
openaire   +3 more sources

Congenital Anomalies in a Neonate With Partial Monosomy of Chromosome 21 q Arm: A Case Report. [PDF]

Cureus
Joy P, Datta S, Sahoo S, Som TK, Tripathy PR, Gaikwad MR, Ayyanar P, Raghav SK.   +7 more
europepmc   +1 more source