Unusual facial appearance, microcephaly, growth and mental retardation, and syndactyly. A new syndrome?
about
Three sibs with phalangeal anomalies, microcephaly, severe mental retardation, and neurological abnormalities.Filippi syndrome: a new case with skeletal abnormalities.Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.Multiple dental and skeletal abnormalities in an individual with filippi syndromeDigital anomalies, microcephaly, and normal intelligence: new syndrome or Feingold syndrome?Postnatal short stature, microcephaly, severe syndactyly of hands and feet, dysmorphic face, and mental retardation: a new syndrome?Filippi Syndrome: Report of a Rare Case.Giorgio Filippi, April 4, 1935-January 19, 1996.How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?
P2860
Q33594243-0D452715-5677-4CEB-9C51-D4324C84264FQ33682345-F9F43CF5-771C-47AE-B259-662F981A0728Q34478016-F5728265-BBA9-41B1-81F6-8E28FCED746BQ37275232-0BADEE00-813C-4D7C-BDFF-2E51946FB887Q39442798-3D4E9848-447C-416D-9C8B-556A6BC1D2BDQ41639135-AF64F34A-E30A-492D-86E9-1C6ED5D18D7EQ41926638-A6CDB149-7A39-4F66-B512-630D81CAAB38Q48840811-F345A549-CD24-4EB8-B0C2-E476B354EBE8Q57922190-43B741EC-1799-4F76-87AE-FBFFCB721167
P2860
Unusual facial appearance, microcephaly, growth and mental retardation, and syndactyly. A new syndrome?
description
1985 nî lūn-bûn
@nan
1985年の論文
@ja
1985年論文
@yue
1985年論文
@zh-hant
1985年論文
@zh-hk
1985年論文
@zh-mo
1985年論文
@zh-tw
1985年论文
@wuu
1985年论文
@zh
1985年论文
@zh-cn
name
Unusual facial appearance, mic ...... nd syndactyly. A new syndrome?
@en
type
label
Unusual facial appearance, mic ...... nd syndactyly. A new syndrome?
@en
prefLabel
Unusual facial appearance, mic ...... nd syndactyly. A new syndrome?
@en
P356
P1476
Unusual facial appearance, mic ...... nd syndactyly. A new syndrome?
@en
P2093
P304
P356
10.1002/AJMG.1320220416
P577
1985-12-01T00:00:00Z