Results 101 to 110 of about 1,690 (126)

A Case of Fibular Aplasia-Tibial Campomelia-Oligosyndactyly (FATCO) Syndrome Associated With Split Hand/Foot Syndrome With Long Bone Deficiency (SHFLD) and Review of the Literature. [PDF]

Cureus
Deftereou TE, Karapepera VR, Alexiadi CA, Tologkos S, Papadatou V, Alexiadis G, Karamanidis D, Maria L.   +7 more
europepmc   +1 more source

A Rare Case of TP63-Associated Lymphopenia Revealed by Newborn Screening Using TREC. [PDF]

Int J Mol Sci
Marakhonov A, Serebryakova E, Mukhina A, Vechkasova A, Prokhorov N, Efimova I, Balinova N, Lobenskaya A, Vasilyeva T, Zabnenkova V, Ryzhkova O, Rodina Y, Pershin D, Soloveva N, Fomenko A, Saydaeva D, Ibisheva A, Irbaieva T, Koroteev A, Zinchenko R, Voronin S, Shcherbina A, Kutsev S.   +22 more
europepmc   +1 more source

Humeroradioulnar Synostosis in a Patient with Underlying Congenital Scoliosis: A Case Report. [PDF]

J Orthop Case Rep
Small T, Kahwaty S, Stall A.
europepmc   +1 more source

From Diagnosis to Decision-Fetal Limb Abnormalities. [PDF]

J Clin Med
Stancioi-Cismaru AF, Capitanescu RG, Naidin MS, Constantin C, Dinu M, Burada F, Tica OS, Gheonea M, Andreiana BC, Pana RC, Tudorache S.   +10 more
europepmc   +1 more source

Ectodermal Dysplasia - An Overview and Update. [PDF]

Indian Dermatol Online J
Dev A, Malhi K, Mahajan R.
europepmc   +1 more source

First case report of a unique combination of congenital limb and skeletal anomalies mimicking VACTERL and Gollop-Wolfgang syndromes. [PDF]

Int J Surg Case Rep
Elewee A, Mayo M, Nasani MK, Mokhlalati J, Omar AAS, AlMasri F.   +5 more
europepmc   +1 more source

The First Colombian Patient with <i>CDH3</i>-Related Hypotrichosis with Juvenile Macular Dystrophy. [PDF]

Skin Appendage Disord
Prieto LE, Vasquez-Forero DM, Pachajoa H.   +2 more
europepmc   +1 more source

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Prenatal diagnosis of ectrodactyly-ectodermal dysplasia clefting syndrome ‒ a case report with literature review

Case Reports in Perinatal Medicine, 2022
Egle Machtejeviene, Egle Savukyne
exaly  

Inverted insertion of chromosome 7q and ectrodactyly

American Journal of Medical Genetics Part A, 1993
K Naritomi, T Tohma
exaly