Disease: Short stature abnormal skin pigmentation mental retardation
- A disease with immune deficiency, skin abscesses, pancytopenia, abnormal bone marrow karyotype, and increased sister chromatid exchanges: an autosomal recessive chromosome instability syndrome?
- Allogenic bone marrow transplantation for Fanconi's anemia with leukemic transformation from an HLA identical father
- An unidentified syndrome with abnormality of skin and hair
- Blaschkoid Skin Lesions in a Young Girl
- Blaschkolinear malformation syndrome in complex trisomy-7 mosaicism
- Brachmann-de Lange syndrome (BDLS) with asymmetry and skin pigmentary anomalies: a result of mosaicism for a putative bdls gene mutation?
- Copy number variants and rasopathies: germline KRAS duplication in a patient with syndrome including pigmentation abnormalities
- Mosaic trisomy 15 in a short girl with hemihypotrophy and mental retardation
- New recessive syndrome characterized by increased chromosomal breakage and several findings which overlap with Fanconi anemia
- Oral manifestations of systemic genetic disorders. 4
- Paternally Inherited Noonan Syndrome Caused by a <em>PTPN11</em> Variant May Exhibit Mild Symptoms: A Case Report and Literature Review