LE WE PMID CA
Cartilage hair hypoplasia1470Knorpel Haar Hypoplasie

5q minus syndrome

Anemia (Diamond Blackfan)

Cartilage hair hypoplasia

Dyskeratosis congenita

Ribosome

RPS14

RPS19

Shwachman Diamond syndrome

Treacher Collins syndrome

1995  
1
2010  
2
Ribosomopathies: human disorders of ribosome dysfunction.
[20194897] Blood 115(16): 3196-205 (2010)

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GG: cartilage hair hypoplasia

  • Knorpel Haar Hypoplasie

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