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Aplasia/Hypoplasia of the skin

MedGen UID:: 870295
•Concept ID:: C4024737
•: Finding

Synonyms:	Absent/small skin; Absent/underdeveloped skin

HPO:	HP:0008065

Term Hierarchy

Recent clinical studies

Diagnosis

Trisomy 4 mosaicism: Delineation of the phenotype.

Bouman A, van der Kevie-Kersemaekers AM, Huijsdens-van Amsterdam K, Dahhan N, Knegt L, Vansenne F, Cobben JM
Am J Med Genet A 2016 Apr;170A(4):1040-5. Epub 2016 Jan 20 doi: 10.1002/ajmg.a.37522. PMID: 26789019

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Aplasia/Hypoplasia of the skin
Aplasia/Hypoplasia of the skin

MedGen
C4024737[conceptid] (1)
MedGen
RecName: Full=DNA topoisomerase 3-beta-1; AltName: Full=DNA topoisomerase III be...
RecName: Full=DNA topoisomerase 3-beta-1; AltName: Full=DNA topoisomerase III beta-1
gi|6686042|sp|Q9Z321.1|TOP3B_MOUSE

Protein
LRRC4 leucine rich repeat containing 4 [Canis lupus familiaris]
LRRC4 leucine rich repeat containing 4 [Canis lupus familiaris]
Gene ID:607997

Gene

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