Results 111 to 120 of about 6,705 (199)

A Case of Macroglossia Neurofibromatosa [PDF]

Proceedings of the Royal Society of Medicine, 1908
W G, Spencer, S G, Shattock
openaire   +2 more sources

Adult presentation of Simpson-Golabi-Behmel syndrome due to a hemizygous <i>GPC3</i> stopgain variant mimicking acromegaly. [PDF]

JCEM Case Rep
Rishabh RK, Gadde S, Acharya H, Bhat V, Delampady K, Hk G.   +5 more
europepmc   +1 more source

Investigation of multilocus imprinting disturbance (MLID) in 101 Beckwith-Wiedemann spectrum patients. [PDF]

Clin Epigenetics
Cazalla M, Parra A, Rodríguez-Antolín C, Silván C, Miranda-Alcaraz L, Mora-Gómez M, Gallego-Zazo N, Rodríguez-Canó M, Jiménez-Estrada JA, Arias P, Gomez EG, González-Meneses A, Barbero P, Lotersztein V, Spanish OverGrowth Registry Initiative , Hildonen M, Tümer Z, Santana A, Ramos F, Ruiz-Perez VL, Tenorio-Castano J, Nevado J, Monk D, Lapunzina P.   +23 more
europepmc   +1 more source

Macroglossia and periorbital ecchymosis [PDF]

European Journal of Internal Medicine, 2016
Nely Mercy, Díaz Mejía, Eduardo Josué, Flores Umanzor, Gala, Caixal   +2 more
openaire   +2 more sources

Lymphangioma-Induced Macroglossia in an Adolescent: A Case Report. [PDF]

Clin Case Rep
Heidary A, Mehrabanian M.
europepmc   +1 more source

Macroglossia Due to Symmetrical Lipomatosis of the Tongue: A Rare Presentation of Madelung's Disease-Case Report. [PDF]

Clin Case Rep
Salamanca-Ramirez D, Villa-Zuluaga DF, Ardila-Torres DA.   +2 more
europepmc   +1 more source

Recent advances in neonatal Beckwith-Wiedemann syndrome: from molecular diagnosis to multidisciplinary management-a narrative review. [PDF]

Transl Pediatr
Xue H, Hu Y, Wu X.
europepmc   +1 more source

Successful management of lymphangioma circumscriptum of the tongue with sirolimus monotherapy: a case report. [PDF]

Oral Maxillofac Surg
Salmon A, Reilly P, Weyh A, Callahan N.
europepmc   +1 more source

Open bite malocclusion and orofacial dysfunction in patients with rare diseases. [PDF]

Eur J Orthod
Havner C, Mogren Å, Sjögreen L, Westerlund A.   +3 more
europepmc   +1 more source

Sarcoglycanopathy with absent expression of all sarcoglycan proteins in a young cat with clinical features of feline hypertrophic muscular dystrophy. [PDF]

JFMS Open Rep
Doroudi A, Sirochman A, Mooney A.
europepmc   +1 more source