Malformation syndromes. A selec... [Birth Defects Orig Artic Ser. 1975] - PubMed

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[The Coffin-Siris syndrome. A new syndrome of mental retardation, hypo-aplasia of the nails and terminal phalanges of the 5th fingers and toes]. [Minerva Pediatr. 1977]
[The Coffin-Siris syndrome. A new syndrome of mental retardation, hypo-aplasia of the nails and terminal phalanges of the 5th fingers and toes].
Mastroiacovo P, Salvaggio E, Parenti D. Minerva Pediatr. 1977 Mar 31; 29(11):773-8.
Polydactyly, conical teeth, nail dysplasia, and short limbs: a new autosomal dominant malformation syndrome. [Birth Defects Orig Artic Ser. ...]
Polydactyly, conical teeth, nail dysplasia, and short limbs: a new autosomal dominant malformation syndrome.
Curry CJ, Hall BD. Birth Defects Orig Artic Ser. 1979; 15(5B):253-63.
Trisomy 22: a clinical entity. [J Pediatr. 1971]
Trisomy 22: a clinical entity.
Hsu LY, Shapiro LR, Gertner M, Lieber E, Hirschhorn K. J Pediatr. 1971 Jul; 79(1):12-9.
Review Oral manifestations of systemic genetic disorders. 3. [Postgrad Med. 1971]
Review Oral manifestations of systemic genetic disorders. 3.
Gorlin RJ, Sedano HO. Postgrad Med. 1971 Mar; 49(3):155-8.
Review The Coffin-Siris syndrome. A report of four cases and review of the literature. [Pediatr Radiol. 1981]
Review The Coffin-Siris syndrome. A report of four cases and review of the literature.
Lucaya J, Garcia-Conesa JA, Bosch-Banyeras JM, Pons-Peradejordi G. Pediatr Radiol. 1981; 11(1):35-8.

Review Mechanisms and pathways of growth failure in primordial dwarfism. [Genes Dev. 2011]
Review Mechanisms and pathways of growth failure in primordial dwarfism.
Klingseisen A, Jackson AP. Genes Dev. 2011 Oct 1; 25(19):2011-24.
Mutations in the pre-replication complex cause Meier-Gorlin syndrome. [Nat Genet. 2011]
Mutations in the pre-replication complex cause Meier-Gorlin syndrome.
Bicknell LS, Bongers EM, Leitch A, Brown S, Schoots J, Harley ME, Aftimos S, Al-Aama JY, Bober M, Brown PA, et al. Nat Genet. 2011 Feb 27; 43(4):356-9. Epub 2011 Feb 27.
BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome. [Hum Genet. 2011]
BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome.
Reis LM, Tyler RC, Schilter KF, Abdul-Rahman O, Innis JW, Kozel BA, Schneider AS, Bardakjian TM, Lose EJ, Martin DM, et al. Hum Genet. 2011 Oct; 130(4):495-504. Epub 2011 Feb 22.

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Malformation syndromes. A selected miscellany.
Malformation syndromes. A selected miscellany.
Birth Defects Orig Artic Ser. 1975 ;11(2):39-50.

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