Results 71 to 80 of about 1,690 (126)

The First Documented Case of Ectrodactyly in Ghana: A Case Report. [PDF]

Cureus
Sobbin SJ, Hackman AE, Gyamfi FE, Kyeremeh DK, Appiagyei JD, Galley F.   +5 more
europepmc   +1 more source

Ectrodactyly and bilateral cleft lip palate in a 2-year-old boy: a rare case report. [PDF]

Int J Surg Case Rep
Budihardja AS, Martin B, Dhearine T, Imanuella Y.   +3 more
europepmc   +1 more source

Severe Neonatal Presentation of Cornelia de Lange Syndrome With Fatal Outcome: A Case Report. [PDF]

Cureus
Cherrabi C, Ayyad A, Ech-Chebab M, Messaoudi S, Amrani R.   +4 more
europepmc   +1 more source

Novel TP63 Mutation (c.1768C>T, p.Pro590Ser) Expands the Phenotypic Spectrum of TP63-related Disorders: Severe Palmoplantar Hyperkeratosis, Ectodermal Dysplasia, and Cutaneous Squamous Cell Carcinoma. [PDF]

Acta Derm Venereol
Xu X, Lin Z, Lin Y, Kang H, Xiao C.
europepmc   +1 more source

Surgical management of ectrodactyly-associated foot deformity in a child: a case report. [PDF]

J Med Case Rep
Raza S, Rehman S, Toor Z, Naeem R, Qureshi SA, Ahmed M, Zubair T, Noori S, Qayyum SN.   +8 more
europepmc   +1 more source

Intracardiac myxoma of unusual topography and rare clinical presentation in the context of congenital polymalformative syndrome: a case report. [PDF]

Eur Heart J Case Rep
Seminerio J, Strachinaru M.
europepmc   +1 more source

Ectrodactyly, Cleft Lip/Palate, and Urinary Anomalies With a Tumor Protein p63 (TP63) Mutation: A Case Report and Literature Review. [PDF]

Cureus
Mohamed RH, Khalifa HM, Hassan HY, Shajira E, Al-Qashar FA.   +4 more
europepmc   +1 more source

Identification of novel tumor protein 63 variant associated with split-hand/foot malformation and tooth agenesis. [PDF]

Front Med (Lausanne)
Long JY, Liu QZ, Chang SH, Wang RY, Jin JY, Li N, Cheng ZB.   +6 more
europepmc   +1 more source

Novel Missense Variant in the FGFR1 Gene Associated With Prenatal Diagnosis of Hartsfield Syndrome. [PDF]

Prenat Diagn
Hodges MB, Gilmore KL, Dyke MJ, Vora NL.
europepmc   +1 more source

Confirmation of the Hotspot Variant in <i>MAP3K20</i> Responsible for Deafness, Ectodermal Dysplasia, Craniosynostosis, Ectrodactyly, and Skeletal Anomaly Spectrum. [PDF]

Mol Syndromol
Taşdelen E, Gönül M, Öztelcan Gündüz B, Üner Ç, Büke A, Sezer A.   +5 more
europepmc   +1 more source