Autosomal recessive mode of inheritance of a Coffin-Siris like syndrome
- PMID: 8775417
Autosomal recessive mode of inheritance of a Coffin-Siris like syndrome
Abstract
Autosomal recessive mode of inheritance of a Coffin-Siris like syndrome: Coffin-Siris syndrome is a rare mental retardation/multiple congenital anomalies syndrome; so far its pattern of inheritance is under debate. We report a child affected by this syndrome, the pedigree of which is consistent with autosomal recessive inheritance.
Similar articles
-
Aminopterin Syndrome Sine Aminopterin (ASSA) syndrome in two siblings: further delineation of the syndrome and review of the literature.Genet Couns. 1994;5(4):345-55. Genet Couns. 1994. PMID: 7888136 Review.
-
Schinzel-Giedion syndrome. A patient with hypothyroidism and diabetes insipidus.Genet Couns. 1994;5(2):187-9. Genet Couns. 1994. PMID: 7917131
-
Autosomal recessive microcephaly with severe psychomotor retardation.Neuropediatrics. 1992 Feb;23(1):53-6. doi: 10.1055/s-2008-1071313. Neuropediatrics. 1992. PMID: 1565220
-
Probable Marden-Walker syndrome: evidence for autosomal recessive inheritance.Birth Defects Orig Artic Ser. 1975;11(2):104-8. Birth Defects Orig Artic Ser. 1975. PMID: 1227520
-
Vertical transmission of the Ohdo blepharophimosis syndrome.Am J Med Genet. 1998 May 1;77(2):144-8. Am J Med Genet. 1998. PMID: 9605288 Review.
Cited by
-
The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases.Am J Med Genet A. 2012 Aug;158A(8):1865-76. doi: 10.1002/ajmg.a.35415. Epub 2012 Jun 18. Am J Med Genet A. 2012. PMID: 22711679 Free PMC article.