Related Experiment Videos
Short stature, absent thumbs, flat facies, anosmia and combined immune deficiency (CID)
Birth Defects Original Article Series
|January 1, 1978
Abstract
No abstract available in PubMed .
Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
Renpenning syndrome maps to Xp11.
American journal of human genetics·1998
Five year study of prenatal testing for Huntington's disease: demand, attitudes, and psychological assessment.
Journal of medical genetics·1993
Leigh's disease with clinical manifestations of Cornelia de Lange syndrome.
Pediatric neurosurgery·1991
Autosomal recessive juvenile cataract in Hutterites.
Ophthalmic paediatrics and genetics·1987
Juvenile cataract in Hutterites.
American journal of medical genetics·1985
Limb anomalies from evolutionary, developmental, and genetic perspectives.
Birth defects original article series·1996
Multisite neural tube closure in humans.
Birth defects original article series·1996
Perioperative Challenges of Unrepaired Tetralogy of Fallot in a Child With Severe Secondary Erythrocytosis: Lessons for the Modern Era.
World journal for pediatric & congenital heart surgery·2026
Corrigendum to "Short-term Safety Profile of Trochanteric-entry Intramedullary Lengthening Nails in Skeletally Immature Patients" [J Pediatr Orthop Soc North Am 16 (2026) 100417].
Journal of the Pediatric Orthopaedic Society of North America·2026
Childhood-onset parkinsonism, dystonia and severe muscle wasting in a Sudanese girl caused by a novel homozygous DnaJ heat shock protein family (heat shock protein 40) member C6 frameshift variant, with an incidental pathogenic breast cancer 1 gene secondary finding: a case report.
Journal of medical case reports·2026
Intraparotid lipoma in a 15-year-old girl: MRI-based diagnosis of a rare parotid lesion.
Radiology case reports·2026